Canonical Allele Identifier: CA5318686

Gene: COL5A1

Linked Data

• dbSNP Id: rs768952767
• ExAC: 9:137623418 A / G
• gnomAD v2: 9-137623418-A-G
• gnomAD v4: 9-134731572-A-G
• MyVariant Identifiers: chr9:g.137623418A>G (hg19) ; chr9:g.134731572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731572A>G , CM000671.2:g.134731572A>G	GRCh38
NC_000009.11:g.137623418A>G , CM000671.1:g.137623418A>G	GRCh37
NC_000009.10:g.136763239A>G	NCBI36
NG_008030.1:g.94767A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1241A>G	ENSP00000360885.4:p.Glu414Gly
ENST00000371817.8:c.1241A>G MANE Select	ENSP00000360882.3:p.Glu414Gly
ENST00000371817.7:c.1241A>G	ENSP00000360882.3:p.Glu414Gly
ENST00000618395.4:c.1241A>G	ENSP00000481360.1:p.Glu414Gly
NM_000093.4:c.1241A>G	NP_000084.3:p.Glu414Gly
NM_001278074.1:c.1241A>G	NP_001265003.1:p.Glu414Gly
XR_929712.1:n.1643A>G
XR_929713.1:n.1643A>G
XM_017014266.2:c.1241A>G	XP_016869755.1:p.Glu414Gly
XR_001746183.1:n.1639A>G
NM_000093.5:c.1241A>G MANE Select	NP_000084.3:p.Glu414Gly