Canonical Allele Identifier: CA302952

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 196728
• ClinVar RCV Id: RCV000177591 ; RCV000539010 ; RCV001535402 ; RCV002269960 ; RCV002314633 ; RCV002500499
• dbSNP Id: rs149964491
• ExAC: 9:137681049 G / A
• gnomAD v2: 9-137681049-G-A
• gnomAD v3: 9-134789203-G-A
• gnomAD v4: 9-134789203-G-A
• MyVariant Identifiers: chr9:g.137681049G>A (hg19) ; chr9:g.134789203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134789203G>A , CM000671.2:g.134789203G>A	GRCh38
NC_000009.11:g.137681049G>A , CM000671.1:g.137681049G>A	GRCh37
NC_000009.10:g.136820870G>A	NCBI36
NG_008030.1:g.152398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.2695G>A	ENSP00000360885.4:p.Gly899Ser
ENST00000371817.8:c.2695G>A MANE Select	ENSP00000360882.3:p.Gly899Ser
ENST00000371817.7:c.2695G>A	ENSP00000360882.3:p.Gly899Ser
ENST00000618395.4:c.2695G>A	ENSP00000481360.1:p.Gly899Ser
NM_000093.4:c.2695G>A	NP_000084.3:p.Gly899Ser
NM_001278074.1:c.2695G>A	NP_001265003.1:p.Gly899Ser
XR_929712.1:n.3097G>A
XR_929713.1:n.3097G>A
XM_017014266.2:c.2695G>A	XP_016869755.1:p.Gly899Ser
XR_001746183.1:n.3093G>A
NM_000093.5:c.2695G>A MANE Select	NP_000084.3:p.Gly899Ser