Canonical Allele Identifier: CA404315017

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13002696T>G (hg19) ; chr19:g.12891882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891882T>G , CM000681.2:g.12891882T>G	GRCh38
NC_000019.9:g.13002696T>G , CM000681.1:g.13002696T>G	GRCh37
NC_000019.8:g.12863696T>G	NCBI36
NG_009292.1:g.5723T>G
NG_013087.1:g.322A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.179T>G MANE Select	ENSP00000222214.4:p.Leu60Arg
ENST00000222214.9:c.179T>G	ENSP00000222214.4:p.Leu60Arg
ENST00000421816.6:n.220T>G
ENST00000585420.5:n.544T>G
ENST00000585760.5:n.215T>G
ENST00000587072.1:c.179T>G	ENSP00000468584.1:p.Leu60Arg
ENST00000587832.5:n.236T>G
ENST00000588905.5:c.143T>G	ENSP00000465770.1:p.Leu48Arg
ENST00000589039.5:c.179T>G	ENSP00000465618.1:p.Leu60Arg
ENST00000590445.5:c.*56T>G	ENSP00000468125.1:n.*56T>G
ENST00000590530.5:c.179T>G	ENSP00000468452.1:p.Leu60Arg
ENST00000590627.5:n.544T>G
ENST00000591043.1:n.215T>G
ENST00000591470.5:c.179T>G	ENSP00000466845.1:p.Leu60Arg
NM_000159.3:c.179T>G	NP_000150.1:p.Leu60Arg
NM_013976.3:c.179T>G	NP_039663.1:p.Leu60Arg
NR_102316.1:n.287T>G
NR_102317.1:n.595T>G
XM_006722721.2:c.179T>G	XP_006722784.1:p.Leu60Arg
XM_011527899.1:c.179T>G	XP_011526201.1:p.Leu60Arg
XM_011527900.1:c.179T>G	XP_011526202.1:p.Leu60Arg
XM_011527899.2:c.179T>G	XP_011526201.1:p.Leu60Arg
XM_011527900.2:c.179T>G	XP_011526202.1:p.Leu60Arg
XM_017026580.1:c.179T>G	XP_016882069.1:p.Leu60Arg
NM_000159.4:c.179T>G MANE Select	NP_000150.1:p.Leu60Arg
NM_013976.4:c.179T>G	NP_039663.1:p.Leu60Arg
NM_013976.5:c.179T>G	NP_039663.1:p.Leu60Arg