Canonical Allele Identifier: CA404314897

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891861C>T , CM000681.2:g.12891861C>T	GRCh38
NC_000019.9:g.13002675C>T , CM000681.1:g.13002675C>T	GRCh37
NC_000019.8:g.12863675C>T	NCBI36
NG_009292.1:g.5702C>T
NG_013087.1:g.343G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.158C>T MANE Select	NP_000150.1:p.Pro53Leu
ENST00000222214.10:c.158C>T MANE Select	ENSP00000222214.4:p.Pro53Leu
NM_000159.3:c.158C>T	NP_000150.1:p.Pro53Leu
NM_013976.3:c.158C>T	NP_039663.1:p.Pro53Leu
NM_013976.4:c.158C>T	NP_039663.1:p.Pro53Leu
NM_013976.5:c.158C>T	NP_039663.1:p.Pro53Leu
NR_102316.1:n.266C>T
NR_102317.1:n.574C>T
ENST00000222214.9:c.158C>T	ENSP00000222214.4:p.Pro53Leu
ENST00000421816.6:n.199C>T
ENST00000585420.5:n.523C>T
ENST00000585760.5:n.194C>T
ENST00000587072.1:c.158C>T	ENSP00000468584.1:p.Pro53Leu
ENST00000587832.5:n.215C>T
ENST00000588905.5:c.122C>T	ENSP00000465770.1:p.Pro41Leu
ENST00000589039.5:c.158C>T	ENSP00000465618.1:p.Pro53Leu
ENST00000590445.5:c.*35C>T	ENSP00000468125.1:n.*35C>T
ENST00000590530.5:c.158C>T	ENSP00000468452.1:p.Pro53Leu
ENST00000590627.5:n.523C>T
ENST00000591043.1:n.194C>T
ENST00000591470.5:c.158C>T	ENSP00000466845.1:p.Pro53Leu
XM_006722721.2:c.158C>T	XP_006722784.1:p.Pro53Leu
XM_011527899.1:c.158C>T	XP_011526201.1:p.Pro53Leu
XM_011527899.2:c.158C>T	XP_011526201.1:p.Pro53Leu
XM_011527900.1:c.158C>T	XP_011526202.1:p.Pro53Leu
XM_011527900.2:c.158C>T	XP_011526202.1:p.Pro53Leu
XM_017026580.1:c.158C>T	XP_016882069.1:p.Pro53Leu