Canonical Allele Identifier: CA2692461566

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134834888-G-C

Genomic Alleles

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

Transcript Alleles

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