Canonical Allele Identifier: CA404315226

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891918G>T , CM000681.2:g.12891918G>T	GRCh38
NC_000019.9:g.13002732G>T , CM000681.1:g.13002732G>T	GRCh37
NC_000019.8:g.12863732G>T	NCBI36
NG_009292.1:g.5759G>T
NG_013087.1:g.286C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.215G>T MANE Select	NP_000150.1:p.Arg72Leu
ENST00000222214.10:c.215G>T MANE Select	ENSP00000222214.4:p.Arg72Leu
NM_000159.3:c.215G>T	NP_000150.1:p.Arg72Leu
NM_013976.3:c.215G>T	NP_039663.1:p.Arg72Leu
NM_013976.4:c.215G>T	NP_039663.1:p.Arg72Leu
NM_013976.5:c.215G>T	NP_039663.1:p.Arg72Leu
NR_102316.1:n.323G>T
NR_102317.1:n.631G>T
ENST00000222214.9:c.215G>T	ENSP00000222214.4:p.Arg72Leu
ENST00000421816.6:n.256G>T
ENST00000585420.5:n.580G>T
ENST00000585760.5:n.251G>T
ENST00000587072.1:c.215G>T	ENSP00000468584.1:p.Arg72Leu
ENST00000587832.5:n.272G>T
ENST00000588905.5:c.179G>T	ENSP00000465770.1:p.Arg60Leu
ENST00000589039.5:c.215G>T	ENSP00000465618.1:p.Arg72Leu
ENST00000590445.5:c.*92G>T	ENSP00000468125.1:n.*92G>T
ENST00000590530.5:c.215G>T	ENSP00000468452.1:p.Arg72Leu
ENST00000590627.5:n.580G>T
ENST00000591043.1:n.251G>T
ENST00000591470.5:c.215G>T	ENSP00000466845.1:p.Arg72Leu
XM_006722721.2:c.215G>T	XP_006722784.1:p.Arg72Leu
XM_011527899.1:c.215G>T	XP_011526201.1:p.Arg72Leu
XM_011527899.2:c.215G>T	XP_011526201.1:p.Arg72Leu
XM_011527900.1:c.215G>T	XP_011526202.1:p.Arg72Leu
XM_011527900.2:c.215G>T	XP_011526202.1:p.Arg72Leu
XM_017026580.1:c.215G>T	XP_016882069.1:p.Arg72Leu