Canonical Allele Identifier: CA404315329
Community Standard Title: NM_000159.4(GCDH):c.229G>T (p.Glu77Ter)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891932G>T , CM000681.2:g.12891932G>T GRCh38
NC_000019.9:g.13002746G>T , CM000681.1:g.13002746G>T GRCh37
NC_000019.8:g.12863746G>T NCBI36
NG_009292.1:g.5773G>T
NG_013087.1:g.272C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.229G>T MANE Select NP_000150.1:p.Glu77Ter
ENST00000222214.10:c.229G>T MANE Select ENSP00000222214.4:p.Glu77Ter
NM_000159.3:c.229G>T NP_000150.1:p.Glu77Ter
NM_013976.3:c.229G>T NP_039663.1:p.Glu77Ter
NM_013976.4:c.229G>T NP_039663.1:p.Glu77Ter
NM_013976.5:c.229G>T NP_039663.1:p.Glu77Ter
NR_102316.1:n.337G>T
NR_102317.1:n.645G>T
ENST00000222214.9:c.229G>T ENSP00000222214.4:p.Glu77Ter
ENST00000421816.6:n.270G>T
ENST00000585420.5:n.594G>T
ENST00000585760.5:n.265G>T
ENST00000587072.1:c.229G>T ENSP00000468584.1:p.Glu77Ter
ENST00000587832.5:n.286G>T
ENST00000588905.5:c.193G>T ENSP00000465770.1:p.Glu65Ter
ENST00000589039.5:c.229G>T ENSP00000465618.1:p.Glu77Ter
ENST00000590445.5:c.*106G>T ENSP00000468125.1:n.*106G>T
ENST00000590530.5:c.229G>T ENSP00000468452.1:p.Glu77Ter
ENST00000590627.5:n.594G>T
ENST00000591043.1:n.265G>T
ENST00000591470.5:c.229G>T ENSP00000466845.1:p.Glu77Ter
XM_006722721.2:c.229G>T XP_006722784.1:p.Glu77Ter
XM_011527899.1:c.229G>T XP_011526201.1:p.Glu77Ter
XM_011527899.2:c.229G>T XP_011526201.1:p.Glu77Ter
XM_011527900.1:c.229G>T XP_011526202.1:p.Glu77Ter
XM_011527900.2:c.229G>T XP_011526202.1:p.Glu77Ter
XM_017026580.1:c.229G>T XP_016882069.1:p.Glu77Ter