Gene
COL10A1
collagen type X alpha 1 chain
- HGNC 2185↗(opens in a new tab)
- Ensembl gene ENSG00000123500↗(opens in a new tab)
- NCBI Gene 1300↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q22.1
- Coordinates
- Chromosome 6: 116,118,909–116,126,132 (GRCh38)
- Exons
- 3 exons across 7.2 kb
- Protein
- 680 amino acids
- MANE Select transcript
- ENST00000651968.1NM_000493.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read COL10A1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads COL10A1 yet. The test sequences your whole genome, so your data includes it all the same.
How COL10A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.3 kb of the gene's 7.2 kb; 2,043 of those bases code for the protein.
How a genome test reads COL10A1
21
positions in COL10A1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 7.2 kb of COL10A1, introns included, not only the 3.3 kb of exons.
Traits linked to COL10A1
The Human Phenotype Ontology lists these as features of the rare conditions COL10A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Bowed thighbone
- Broad femoral neck
- Broad wide portion of long bone
- Coxa vara
- Enlarged end part of innermost thighbone
- Increased bone density in wide portion of long bone
- Irregular wide portion of a long bone
- Abnormal wide portion of innermost thighbone
Show 23 more traits
- Abnormality of wide portion of outermost thighbone
- Limb undergrowth
- Metaphyseal cupping
- Abnormality of the wide portion of the hand bone
- Broad innermost finger bones of the hand
- Cupping of wide portion of long bone of hand
- Distal femoral metaphyseal irregularity
- Flared wide portion of long bone
- Knock knees
- Metaphyseal cupping of proximal phalanges
- Outward bow-leggedness
- Proximal femoral metaphyseal irregularity
- Short tubular bones of the hand
- Wide innermost wide portion of shankbone bone
- Bowed legs
- Radial metaphyseal irregularity
- Ulnar metaphyseal irregularity
- Broad middle finger bones
- Distal tibial bowing
- Irregular acetabular roof
- Metaphyseal chondrodysplasia
- Short middle bone of finger
- Short outermost finger bone
Abnormality of the musculoskeletal system
- Thick growth plates
- Abnormal formation of the hip
- Anterior rib cupping
- Excessive inward curvature of lower spine
- Increased bone density in ribs
- Short long bone
- Abnormal vertebral morphology
- Flattened vertebrae
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). COL10A1 gene: collagen type X alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col10a1
Dante Labs. COL10A1 gene: collagen type X alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col10a1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks