Canonical Allele Identifier: CA12975185

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1290385
• ClinVar RCV Id: RCV001715192
• dbSNP Id: rs7874142
• gnomAD v2: 9-137704782-G-A
• gnomAD v3: 9-134812936-G-A
• gnomAD v4: 9-134812936-G-A
• MyVariant Identifiers: chr9:g.137704782G>A (hg19) ; chr9:g.134812936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134812936G>A , CM000671.2:g.134812936G>A	GRCh38
NC_000009.11:g.137704782G>A , CM000671.1:g.137704782G>A	GRCh37
NC_000009.10:g.136844603G>A	NCBI36
NG_008030.1:g.176131G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.3852+224G>A	ENSP00000360885.4:n.3852+224G>A
ENST00000371817.8:c.3852+224G>A MANE Select	ENSP00000360882.3:n.3852+224G>A
ENST00000371817.7:c.3852+224G>A	ENSP00000360882.3:n.3852+224G>A
ENST00000618395.4:c.3852+224G>A	ENSP00000481360.1:n.3852+224G>A
NM_000093.4:c.3852+224G>A	NP_000084.3:n.3852+224G>A
NM_001278074.1:c.3852+224G>A	NP_001265003.1:n.3852+224G>A
XR_929712.1:n.4254+224G>A
XR_929713.1:n.4254+224G>A
XM_017014266.2:c.3852+224G>A	XP_016869755.1:n.3852+224G>A
XR_001746183.1:n.4250+224G>A
NM_000093.5:c.3852+224G>A MANE Select	NP_000084.3:n.3852+224G>A