Canonical Allele Identifier: CA9234269

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891872G>A , CM000681.2:g.12891872G>A	GRCh38
NC_000019.9:g.13002686G>A , CM000681.1:g.13002686G>A	GRCh37
NC_000019.8:g.12863686G>A	NCBI36
NG_009292.1:g.5713G>A
NG_013087.1:g.332C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.169G>A MANE Select	NP_000150.1:p.Glu57Lys
ENST00000222214.10:c.169G>A MANE Select	ENSP00000222214.4:p.Glu57Lys
NM_000159.3:c.169G>A	NP_000150.1:p.Glu57Lys
NM_013976.3:c.169G>A	NP_039663.1:p.Glu57Lys
NM_013976.4:c.169G>A	NP_039663.1:p.Glu57Lys
NM_013976.5:c.169G>A	NP_039663.1:p.Glu57Lys
NR_102316.1:n.277G>A
NR_102317.1:n.585G>A
ENST00000222214.9:c.169G>A	ENSP00000222214.4:p.Glu57Lys
ENST00000421816.6:n.210G>A
ENST00000585420.5:n.534G>A
ENST00000585760.5:n.205G>A
ENST00000587072.1:c.169G>A	ENSP00000468584.1:p.Glu57Lys
ENST00000587832.5:n.226G>A
ENST00000588905.5:c.133G>A	ENSP00000465770.1:p.Glu45Lys
ENST00000589039.5:c.169G>A	ENSP00000465618.1:p.Glu57Lys
ENST00000590445.5:c.*46G>A	ENSP00000468125.1:n.*46G>A
ENST00000590530.5:c.169G>A	ENSP00000468452.1:p.Glu57Lys
ENST00000590627.5:n.534G>A
ENST00000591043.1:n.205G>A
ENST00000591470.5:c.169G>A	ENSP00000466845.1:p.Glu57Lys
XM_006722721.2:c.169G>A	XP_006722784.1:p.Glu57Lys
XM_011527899.1:c.169G>A	XP_011526201.1:p.Glu57Lys
XM_011527899.2:c.169G>A	XP_011526201.1:p.Glu57Lys
XM_011527900.1:c.169G>A	XP_011526202.1:p.Glu57Lys
XM_011527900.2:c.169G>A	XP_011526202.1:p.Glu57Lys
XM_017026580.1:c.169G>A	XP_016882069.1:p.Glu57Lys