Canonical Allele Identifier: CA16041963
Gene: GCDH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370338
ClinVar RCV Id: RCV000412281

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891875G>T , CM000681.2:g.12891875G>T GRCh38
NC_000019.8:g.12863689G>T NCBI36
NC_000019.9:g.13002689G>T , CM000681.1:g.13002689G>T GRCh37
NG_009292.1:g.5716G>T
NG_013087.1:g.329C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.9:c.172G>T ENSP00000222214.4:p.Glu58Ter
ENST00000421816.6:n.213G>T
ENST00000585420.5:n.537G>T
ENST00000585760.5:n.208G>T
ENST00000587072.1:c.172G>T ENSP00000468584.1:p.Glu58Ter
ENST00000587832.5:n.229G>T
ENST00000588905.5:c.136G>T ENSP00000465770.1:p.Glu46Ter
ENST00000589039.5:c.172G>T ENSP00000465618.1:p.Glu58Ter
ENST00000590445.5:c.*49G>T ENSP00000468125.1:p.=
ENST00000590530.5:c.172G>T ENSP00000468452.1:p.Glu58Ter
ENST00000590627.5:n.537G>T
ENST00000591043.1:n.208G>T
ENST00000591470.5:c.172G>T ENSP00000466845.1:p.Glu58Ter
NM_000159.3:c.172G>T NP_000150.1:p.Glu58Ter
NM_013976.3:c.172G>T NP_039663.1:p.Glu58Ter
NR_102316.1:n.280G>T
NR_102317.1:n.588G>T
XM_006722721.2:c.172G>T XP_006722784.1:p.Glu58Ter
XM_011527899.1:c.172G>T XP_011526201.1:p.Glu58Ter
XM_011527900.1:c.172G>T XP_011526202.1:p.Glu58Ter