Canonical Allele Identifier: CA2692454529

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134750531-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750531C>G , CM000671.2:g.134750531C>G	GRCh38
NC_000009.11:g.137642377C>G , CM000671.1:g.137642377C>G	GRCh37
NC_000009.10:g.136782198C>G	NCBI36
NG_008030.1:g.113726C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1495-11C>G	ENSP00000360885.4:n.1495-11C>G
ENST00000371817.8:c.1495-11C>G MANE Select	ENSP00000360882.3:n.1495-11C>G
ENST00000371817.7:c.1495-11C>G	ENSP00000360882.3:n.1495-11C>G
ENST00000618395.4:c.1495-11C>G	ENSP00000481360.1:n.1495-11C>G
NM_000093.4:c.1495-11C>G	NP_000084.3:n.1495-11C>G
NM_001278074.1:c.1495-11C>G	NP_001265003.1:n.1495-11C>G
XR_929712.1:n.1897-11C>G
XR_929713.1:n.1897-11C>G
XM_017014266.2:c.1495-11C>G	XP_016869755.1:n.1495-11C>G
XR_001746183.1:n.1893-11C>G
NM_000093.5:c.1495-11C>G MANE Select	NP_000084.3:n.1495-11C>G