Canonical Allele Identifier: CA2323621195
Community Standard Title: NM_000159.4(GCDH):c.262C= (p.Arg88=)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891965C= , CM000681.2:g.12891965C= GRCh38
NC_000019.9:g.13002779C= , CM000681.1:g.13002779C= GRCh37
NC_000019.8:g.12863779C= NCBI36
NG_009292.1:g.5806C=
NG_013087.1:g.239G=

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.262C= MANE Select NP_000150.1:p.Arg88=
ENST00000222214.10:c.262C= MANE Select ENSP00000222214.4:p.Arg88=
NM_000159.3:c.262C= NP_000150.1:p.Arg88=
NM_013976.3:c.262C= NP_039663.1:p.Arg88=
NM_013976.4:c.262C= NP_039663.1:p.Arg88=
NM_013976.5:c.262C= NP_039663.1:p.Arg88=
NR_102316.1:n.370C=
NR_102317.1:n.678C=
ENST00000222214.9:c.262C= ENSP00000222214.4:p.Arg88=
ENST00000421816.6:n.303C=
ENST00000585420.5:n.627C=
ENST00000585760.5:n.298C=
ENST00000587072.1:c.262C= ENSP00000468584.1:p.Arg88=
ENST00000587832.5:n.319C=
ENST00000588905.5:c.226C= ENSP00000465770.1:p.Arg76=
ENST00000589039.5:c.262C= ENSP00000465618.1:p.Arg88=
ENST00000590445.5:c.*139C= ENSP00000468125.1:n.*139C=
ENST00000590530.5:c.262C= ENSP00000468452.1:p.Arg88=
ENST00000590627.5:n.627C=
ENST00000591043.1:n.298C=
ENST00000591470.5:c.262C= ENSP00000466845.1:p.Arg88=
XM_006722721.2:c.262C= XP_006722784.1:p.Arg88=
XM_011527899.1:c.262C= XP_011526201.1:p.Arg88=
XM_011527899.2:c.262C= XP_011526201.1:p.Arg88=
XM_011527900.1:c.262C= XP_011526202.1:p.Arg88=
XM_011527900.2:c.262C= XP_011526202.1:p.Arg88=
XM_017026580.1:c.262C= XP_016882069.1:p.Arg88=