Canonical Allele Identifier: CA404314524
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 2099146
ClinVar RCV Id: RCV003021570
dbSNP Id: rs1473339589

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891523G>T , CM000681.2:g.12891523G>T GRCh38
NC_000019.9:g.13002337G>T , CM000681.1:g.13002337G>T GRCh37
NC_000019.8:g.12863337G>T NCBI36
NG_009292.1:g.5364G>T
NG_013087.1:g.681C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.127+1G>T MANE Select ENSP00000222214.4:n.127+1G>T
ENST00000222214.9:c.127+1G>T ENSP00000222214.4:n.127+1G>T
ENST00000421816.6:n.168+128G>T
ENST00000585420.5:n.185G>T
ENST00000585760.5:n.163+1G>T
ENST00000587072.1:c.127+1G>T ENSP00000468584.1:n.127+1G>T
ENST00000587832.5:n.184+1G>T
ENST00000588905.5:c.91+128G>T ENSP00000465770.1:n.91+128G>T
ENST00000589039.5:c.127+1G>T ENSP00000465618.1:n.127+1G>T
ENST00000590445.5:c.128G>T ENSP00000468125.1:p.Cys43Phe
ENST00000590530.5:c.127+1G>T ENSP00000468452.1:n.127+1G>T
ENST00000590627.5:n.185G>T
ENST00000591043.1:n.163+1G>T
ENST00000591470.5:c.127+1G>T ENSP00000466845.1:n.127+1G>T
NM_000159.3:c.127+1G>T NP_000150.1:n.127+1G>T
NM_013976.3:c.127+1G>T NP_039663.1:n.127+1G>T
NR_102316.1:n.235+1G>T
NR_102317.1:n.236G>T
XM_006722721.2:c.127+1G>T XP_006722784.1:n.127+1G>T
XM_011527899.1:c.127+1G>T XP_011526201.1:n.127+1G>T
XM_011527900.1:c.127+1G>T XP_011526202.1:n.127+1G>T
XM_011527899.2:c.127+1G>T XP_011526201.1:n.127+1G>T
XM_011527900.2:c.127+1G>T XP_011526202.1:n.127+1G>T
XM_017026580.1:c.127+1G>T XP_016882069.1:n.127+1G>T
NM_000159.4:c.127+1G>T MANE Select NP_000150.1:n.127+1G>T
NM_013976.4:c.127+1G>T NP_039663.1:n.127+1G>T
NM_013976.5:c.127+1G>T NP_039663.1:n.127+1G>T