Canonical Allele Identifier: CA5318691
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704812
ClinVar RCV Id: RCV003594986
dbSNP Id: rs767752804

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731583G>A , CM000671.2:g.134731583G>A GRCh38
NC_000009.11:g.137623429G>A , CM000671.1:g.137623429G>A GRCh37
NC_000009.10:g.136763250G>A NCBI36
NG_008030.1:g.94778G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1252G>A ENSP00000360885.4:p.Asp418Asn
ENST00000371817.8:c.1252G>A MANE Select ENSP00000360882.3:p.Asp418Asn
ENST00000371817.7:c.1252G>A ENSP00000360882.3:p.Asp418Asn
ENST00000618395.4:c.1252G>A ENSP00000481360.1:p.Asp418Asn
NM_000093.4:c.1252G>A NP_000084.3:p.Asp418Asn
NM_001278074.1:c.1252G>A NP_001265003.1:p.Asp418Asn
XR_929712.1:n.1654G>A
XR_929713.1:n.1654G>A
XM_017014266.2:c.1252G>A XP_016869755.1:p.Asp418Asn
XR_001746183.1:n.1650G>A
NM_000093.5:c.1252G>A MANE Select NP_000084.3:p.Asp418Asn