Canonical Allele Identifier: CA591363512

Gene: COL5A1

Linked Data

• dbSNP Id: rs1444435802
• gnomAD v2: 9-137726743-G-A
• gnomAD v3: 9-134834897-G-A
• gnomAD v4: 9-134834897-G-A
• MyVariant Identifiers: chr9:g.137726743G>A (hg19) ; chr9:g.134834897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834897G>A , CM000671.2:g.134834897G>A	GRCh38
NC_000009.11:g.137726743G>A , CM000671.1:g.137726743G>A	GRCh37
NC_000009.10:g.136866564G>A	NCBI36
NG_008030.1:g.198092G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-74G>A	ENSP00000360885.4:n.5137-74G>A
ENST00000371817.8:c.5137-74G>A MANE Select	ENSP00000360882.3:n.5137-74G>A
ENST00000371817.7:c.5137-74G>A	ENSP00000360882.3:n.5137-74G>A
ENST00000371820.3:c.395-74G>A
ENST00000618395.4:c.5137-74G>A	ENSP00000481360.1:n.5137-74G>A
NM_000093.4:c.5137-74G>A	NP_000084.3:n.5137-74G>A
NM_001278074.1:c.5137-74G>A	NP_001265003.1:n.5137-74G>A
NR_103451.2:n.71-14688C>T
XR_929712.1:n.5821-74G>A
XR_929713.1:n.5689-74G>A
XM_017014266.2:c.*2144G>A	XP_016869755.1:n.*2144G>A
XR_001746183.1:n.7822G>A
NM_000093.5:c.5137-74G>A MANE Select	NP_000084.3:n.5137-74G>A