Canonical Allele Identifier: CA467653318
Gene: COL5A1 HGNC NCBI

Linked Data

COSMIC: COSM753245
MyVariant Identifiers: chr9:g.137642656C>A (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1590C>A ENSP00000360885.4:p.Gly530=
ENST00000371817.8:c.1590C>A MANE Select ENSP00000360882.3:p.Gly530=
ENST00000371817.7:c.1590C>A ENSP00000360882.3:p.Gly530=
ENST00000618395.4:c.1590C>A ENSP00000481360.1:p.Gly530=
NM_000093.4:c.1590C>A NP_000084.3:p.Gly530=
NM_001278074.1:c.1590C>A NP_001265003.1:p.Gly530=
XR_929712.1:n.1992C>A
XR_929713.1:n.1992C>A
XM_017014266.2:c.1590C>A XP_016869755.1:p.Gly530=
XR_001746183.1:n.1988C>A
NM_000093.5:c.1590C>A MANE Select NP_000084.3:p.Gly530=
Search 100 bp 5'
Search 100 bp 3'