Canonical Allele Identifier: CA860888322

Gene: COL5A1

Linked Data

• dbSNP Id: rs1243836095
• gnomAD v4: 9-134834888-G-A
• MyVariant Identifiers: chr9:g.137726734G>A (hg19) ; chr9:g.134834888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834888G>A , CM000671.2:g.134834888G>A	GRCh38
NC_000009.11:g.137726734G>A , CM000671.1:g.137726734G>A	GRCh37
NC_000009.10:g.136866555G>A	NCBI36
NG_008030.1:g.198083G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-83G>A	ENSP00000360885.4:n.5137-83G>A
ENST00000371817.8:c.5137-83G>A MANE Select	ENSP00000360882.3:n.5137-83G>A
ENST00000371817.7:c.5137-83G>A	ENSP00000360882.3:n.5137-83G>A
ENST00000371820.3:c.395-83G>A
ENST00000618395.4:c.5137-83G>A	ENSP00000481360.1:n.5137-83G>A
NM_000093.4:c.5137-83G>A	NP_000084.3:n.5137-83G>A
NM_001278074.1:c.5137-83G>A	NP_001265003.1:n.5137-83G>A
NR_103451.2:n.71-14679C>T
XR_929712.1:n.5821-83G>A
XR_929713.1:n.5689-83G>A
XM_017014266.2:c.*2135G>A	XP_016869755.1:n.*2135G>A
XR_001746183.1:n.7813G>A
NM_000093.5:c.5137-83G>A MANE Select	NP_000084.3:n.5137-83G>A