Canonical Allele Identifier: CA118736
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 7355
ClinVar RCV Id: RCV000007780
dbSNP Id: rs104894296

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307244G>A , CM000673.2:g.121307244G>A GRCh38
NC_000011.9:g.121177953G>A , CM000673.1:g.121177953G>A GRCh37
NC_000011.8:g.120683163G>A NCBI36
NG_009446.1:g.19566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.632G>A MANE Select ENSP00000264027.4:p.Gly211Asp
ENST00000264027.8:c.632G>A ENSP00000264027.4:p.Gly211Asp
ENST00000392789.2:c.632G>A ENSP00000376539.2:p.Gly211Asp
ENST00000527183.1:n.925G>A
ENST00000528991.1:n.325G>A
ENST00000534230.5:c.631+1G>A ENSP00000432550.1:n.631+1G>A
NM_001024956.2:c.632G>A NP_001020127.1:p.Gly211Asp
NM_006918.4:c.632G>A NP_008849.2:p.Gly211Asp
NM_006918.5:c.632G>A MANE Select NP_008849.2:p.Gly211Asp
NM_001024956.3:c.632G>A NP_001020127.1:p.Gly211Asp