Canonical Allele Identifier: CA2323623408

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896417T= , CM000681.2:g.12896417T=	GRCh38
NC_000019.9:g.13007231T= , CM000681.1:g.13007231T=	GRCh37
NC_000019.8:g.12868231T=	NCBI36
NG_009292.1:g.10258T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.848T= MANE Select	NP_000150.1:p.Leu283=
ENST00000222214.10:c.848T= MANE Select	ENSP00000222214.4:p.Leu283=
NM_000159.3:c.848T=	NP_000150.1:p.Leu283=
NM_013976.3:c.848T=	NP_039663.1:p.Leu283=
NM_013976.4:c.848T=	NP_039663.1:p.Leu283=
NM_013976.5:c.848T=	NP_039663.1:p.Leu283=
NR_102316.1:n.1011T=
NR_102317.1:n.1229T=
ENST00000222214.9:c.848T=	ENSP00000222214.4:p.Leu283=
ENST00000421816.6:n.826T=
ENST00000585420.5:n.1178T=
ENST00000590530.5:c.*288T=	ENSP00000468452.1:n.*288T=
ENST00000591043.1:n.884T=
ENST00000591470.5:c.848T=	ENSP00000466845.1:p.Leu283=
XM_006722721.2:c.848T=	XP_006722784.1:p.Leu283=
XM_011527899.1:c.848T=	XP_011526201.1:p.Leu283=
XM_011527899.2:c.848T=	XP_011526201.1:p.Leu283=
XM_011527900.1:c.848T=	XP_011526202.1:p.Leu283=
XM_011527900.2:c.848T=	XP_011526202.1:p.Leu283=
XM_017026580.1:c.848T=	XP_016882069.1:p.Leu283=