Canonical Allele Identifier: CA2323622019
Community Standard Title: NM_000159.4(GCDH):c.382C= (p.Arg128=)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893530C= , CM000681.2:g.12893530C= GRCh38
NC_000019.9:g.13004344C= , CM000681.1:g.13004344C= GRCh37
NC_000019.8:g.12865344C= NCBI36
NG_009292.1:g.7371C=

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.382C= MANE Select NP_000150.1:p.Arg128=
ENST00000222214.10:c.382C= MANE Select ENSP00000222214.4:p.Arg128=
NM_000159.3:c.382C= NP_000150.1:p.Arg128=
NM_013976.3:c.382C= NP_039663.1:p.Arg128=
NM_013976.4:c.382C= NP_039663.1:p.Arg128=
NM_013976.5:c.382C= NP_039663.1:p.Arg128=
NR_102316.1:n.545C=
NR_102317.1:n.798C=
ENST00000222214.9:c.382C= ENSP00000222214.4:p.Arg128=
ENST00000421816.6:n.360C=
ENST00000585420.5:n.747C=
ENST00000587832.5:n.439C=
ENST00000588905.5:c.346C= ENSP00000465770.1:p.Arg116=
ENST00000589039.5:c.319C= ENSP00000465618.1:p.Arg107=
ENST00000590530.5:c.437C= ENSP00000468452.1:p.Pro146=
ENST00000590627.5:n.747C=
ENST00000591043.1:n.418C=
ENST00000591470.5:c.382C= ENSP00000466845.1:p.Arg128=
XM_006722721.2:c.382C= XP_006722784.1:p.Arg128=
XM_011527899.1:c.382C= XP_011526201.1:p.Arg128=
XM_011527899.2:c.382C= XP_011526201.1:p.Arg128=
XM_011527900.1:c.382C= XP_011526202.1:p.Arg128=
XM_011527900.2:c.382C= XP_011526202.1:p.Arg128=
XM_017026580.1:c.382C= XP_016882069.1:p.Arg128=