Canonical Allele Identifier: CA375450799

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 636962
• ClinVar RCV Id: RCV000788938
• dbSNP Id: rs1588480833
• MyVariant Identifiers: chr9:g.137623399A>G (hg19) ; chr9:g.134731553A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731553A>G , CM000671.2:g.134731553A>G	GRCh38
NC_000009.11:g.137623399A>G , CM000671.1:g.137623399A>G	GRCh37
NC_000009.10:g.136763220A>G	NCBI36
NG_008030.1:g.94748A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1222A>G	ENSP00000360885.4:p.Thr408Ala
ENST00000371817.8:c.1222A>G MANE Select	ENSP00000360882.3:p.Thr408Ala
ENST00000371817.7:c.1222A>G	ENSP00000360882.3:p.Thr408Ala
ENST00000618395.4:c.1222A>G	ENSP00000481360.1:p.Thr408Ala
NM_000093.4:c.1222A>G	NP_000084.3:p.Thr408Ala
NM_001278074.1:c.1222A>G	NP_001265003.1:p.Thr408Ala
XR_929712.1:n.1624A>G
XR_929713.1:n.1624A>G
XM_017014266.2:c.1222A>G	XP_016869755.1:p.Thr408Ala
XR_001746183.1:n.1620A>G
NM_000093.5:c.1222A>G MANE Select	NP_000084.3:p.Thr408Ala