Canonical Allele Identifier: CA9234425

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896022T>G , CM000681.2:g.12896022T>G	GRCh38
NC_000019.9:g.13006836T>G , CM000681.1:g.13006836T>G	GRCh37
NC_000019.8:g.12867836T>G	NCBI36
NG_009292.1:g.9863T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.536T>G MANE Select	NP_000150.1:p.Leu179Arg
ENST00000222214.10:c.536T>G MANE Select	ENSP00000222214.4:p.Leu179Arg
NM_000159.3:c.536T>G	NP_000150.1:p.Leu179Arg
NM_013976.3:c.536T>G	NP_039663.1:p.Leu179Arg
NM_013976.4:c.536T>G	NP_039663.1:p.Leu179Arg
NM_013976.5:c.536T>G	NP_039663.1:p.Leu179Arg
NR_102316.1:n.699T>G
NR_102317.1:n.952T>G
ENST00000222214.9:c.536T>G	ENSP00000222214.4:p.Leu179Arg
ENST00000421816.6:n.514T>G
ENST00000585420.5:n.901T>G
ENST00000590530.5:c.591T>G	ENSP00000468452.1:p.Ala197=
ENST00000591043.1:n.572T>G
ENST00000591470.5:c.536T>G	ENSP00000466845.1:p.Leu179Arg
XM_006722721.2:c.536T>G	XP_006722784.1:p.Leu179Arg
XM_011527899.1:c.536T>G	XP_011526201.1:p.Leu179Arg
XM_011527899.2:c.536T>G	XP_011526201.1:p.Leu179Arg
XM_011527900.1:c.536T>G	XP_011526202.1:p.Leu179Arg
XM_011527900.2:c.536T>G	XP_011526202.1:p.Leu179Arg
XM_017026580.1:c.536T>G	XP_016882069.1:p.Leu179Arg