Canonical Allele Identifier: CA9234420

Gene: GCDH

Linked Data

• dbSNP Id: rs748541873
• ExAC: 19:13006818 T / G
• MyVariant Identifiers: chr19:g.13006818T>G (hg19) ; chr19:g.12896004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896004T>G , CM000681.2:g.12896004T>G	GRCh38
NC_000019.9:g.13006818T>G , CM000681.1:g.13006818T>G	GRCh37
NC_000019.8:g.12867818T>G	NCBI36
NG_009292.1:g.9845T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.518T>G MANE Select	ENSP00000222214.4:p.Leu173Arg
ENST00000222214.9:c.518T>G	ENSP00000222214.4:p.Leu173Arg
ENST00000421816.6:n.496T>G
ENST00000585420.5:n.883T>G
ENST00000588905.5:c.482T>G	ENSP00000465770.1:p.Leu161Arg
ENST00000590530.5:c.573T>G	ENSP00000468452.1:p.Ala191=
ENST00000591043.1:n.554T>G
ENST00000591470.5:c.518T>G	ENSP00000466845.1:p.Leu173Arg
NM_000159.3:c.518T>G	NP_000150.1:p.Leu173Arg
NM_013976.3:c.518T>G	NP_039663.1:p.Leu173Arg
NR_102316.1:n.681T>G
NR_102317.1:n.934T>G
XM_006722721.2:c.518T>G	XP_006722784.1:p.Leu173Arg
XM_011527899.1:c.518T>G	XP_011526201.1:p.Leu173Arg
XM_011527900.1:c.518T>G	XP_011526202.1:p.Leu173Arg
XM_011527899.2:c.518T>G	XP_011526201.1:p.Leu173Arg
XM_011527900.2:c.518T>G	XP_011526202.1:p.Leu173Arg
XM_017026580.1:c.518T>G	XP_016882069.1:p.Leu173Arg
NM_000159.4:c.518T>G MANE Select	NP_000150.1:p.Leu173Arg
NM_013976.4:c.518T>G	NP_039663.1:p.Leu173Arg
NM_013976.5:c.518T>G	NP_039663.1:p.Leu173Arg