Canonical Allele Identifier: CA252099
Gene: GCDH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2088
dbSNP Id: rs121434372

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897818G>A , CM000681.2:g.12897818G>A GRCh38
NC_000019.8:g.12869632G>A NCBI36
NC_000019.9:g.13008632G>A , CM000681.1:g.13008632G>A GRCh37
NG_009292.1:g.11659G>A
NG_033049.1:g.26455C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.9:c.1198G>A ENSP00000222214.4:p.Val400Met
ENST00000585420.5:n.1528G>A
ENST00000590472.5:n.242G>A
ENST00000590530.5:c.*638G>A ENSP00000468452.1:p.=
ENST00000591043.1:n.1508G>A
ENST00000591050.1:n.165G>A
ENST00000591470.5:c.1198G>A ENSP00000466845.1:p.Val400Met
NM_000159.3:c.1198G>A NP_000150.1:p.Val400Met
NM_013976.3:c.1198G>A NP_039663.1:p.Val400Met
NR_102316.1:n.1361G>A
NR_102317.1:n.1579G>A
XM_006722721.2:c.1198G>A XP_006722784.1:p.Val400Met
XM_011527899.1:c.1198G>A XP_011526201.1:p.Val400Met
XM_011527900.1:c.1198G>A XP_011526202.1:p.Val400Met