Canonical Allele Identifier: CA321292
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212884
dbSNP Id: rs769010469

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750810C>T , CM000671.2:g.134750810C>T GRCh38
NC_000009.11:g.137642656C>T , CM000671.1:g.137642656C>T GRCh37
NC_000009.10:g.136782477C>T NCBI36
NG_008030.1:g.114005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1590C>T ENSP00000360885.4:p.Gly530=
ENST00000371817.8:c.1590C>T MANE Select ENSP00000360882.3:p.Gly530=
ENST00000371817.7:c.1590C>T ENSP00000360882.3:p.Gly530=
ENST00000618395.4:c.1590C>T ENSP00000481360.1:p.Gly530=
NM_000093.4:c.1590C>T NP_000084.3:p.Gly530=
NM_001278074.1:c.1590C>T NP_001265003.1:p.Gly530=
XR_929712.1:n.1992C>T
XR_929713.1:n.1992C>T
XM_017014266.2:c.1590C>T XP_016869755.1:p.Gly530=
XR_001746183.1:n.1988C>T
NM_000093.5:c.1590C>T MANE Select NP_000084.3:p.Gly530=