Canonical Allele Identifier: CA2692454560

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134750694-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750694T>G , CM000671.2:g.134750694T>G	GRCh38
NC_000009.11:g.137642540T>G , CM000671.1:g.137642540T>G	GRCh37
NC_000009.10:g.136782361T>G	NCBI36
NG_008030.1:g.113889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1569+78T>G	ENSP00000360885.4:n.1569+78T>G
ENST00000371817.8:c.1569+78T>G MANE Select	ENSP00000360882.3:n.1569+78T>G
ENST00000371817.7:c.1569+78T>G	ENSP00000360882.3:n.1569+78T>G
ENST00000618395.4:c.1569+78T>G	ENSP00000481360.1:n.1569+78T>G
NM_000093.4:c.1569+78T>G	NP_000084.3:n.1569+78T>G
NM_001278074.1:c.1569+78T>G	NP_001265003.1:n.1569+78T>G
XR_929712.1:n.1971+78T>G
XR_929713.1:n.1971+78T>G
XM_017014266.2:c.1569+78T>G	XP_016869755.1:n.1569+78T>G
XR_001746183.1:n.1967+78T>G
NM_000093.5:c.1569+78T>G MANE Select	NP_000084.3:n.1569+78T>G