Canonical Allele Identifier: CA2579506826

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134822229-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822229C>A , CM000671.2:g.134822229C>A	GRCh38
NC_000009.11:g.137714075C>A , CM000671.1:g.137714075C>A	GRCh37
NC_000009.10:g.136853896C>A	NCBI36
NG_008030.1:g.185424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+79C>A	ENSP00000360885.4:n.4608+79C>A
ENST00000371817.8:c.4608+79C>A MANE Select	ENSP00000360882.3:n.4608+79C>A
ENST00000371817.7:c.4608+79C>A	ENSP00000360882.3:n.4608+79C>A
ENST00000618395.4:c.4608+79C>A	ENSP00000481360.1:n.4608+79C>A
NM_000093.4:c.4608+79C>A	NP_000084.3:n.4608+79C>A
NM_001278074.1:c.4608+79C>A	NP_001265003.1:n.4608+79C>A
NR_103451.2:n.71-2020G>T
XR_929712.1:n.5010+79C>A
XR_929713.1:n.5010+79C>A
XM_017014266.2:c.4608+79C>A	XP_016869755.1:n.4608+79C>A
XR_001746183.1:n.5006+79C>A
NM_000093.5:c.4608+79C>A MANE Select	NP_000084.3:n.4608+79C>A