Canonical Allele Identifier: CA1339784293

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767710G= , CM000664.2:g.241767710G=	GRCh38
NC_000002.11:g.242707125G= , CM000664.1:g.242707125G=	GRCh37
NC_000002.10:g.242355798G=	NCBI36
NG_012012.1:g.38096G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307G= MANE Select	ENSP00000315351.4:p.Gly436=
ENST00000321264.8:c.1307G=	ENSP00000315351.4:p.Gly436=
ENST00000400769.6:c.*57G=	ENSP00000383580.2:n.*57G=
ENST00000403782.5:c.905G=	ENSP00000384723.1:p.Gly302=
ENST00000436747.5:c.*2543G=	ENSP00000400212.1:n.*2543G=
ENST00000445308.1:c.703G=
ENST00000468064.5:n.1197G=
ENST00000470343.5:n.788G=
ENST00000473126.1:n.506G=
ENST00000486953.5:n.1134-3G=
ENST00000610344.1:c.*151G=	ENSP00000481906.1:n.*151G=
NM_001287249.1:c.905G=	NP_001274178.1:p.Gly302=
NM_152783.4:c.1307G=	NP_689996.4:p.Gly436=
NR_109778.1:n.1229G=
XM_011511734.1:c.1427G=	XP_011510036.1:p.Gly476=
XM_011511735.1:c.1385G=	XP_011510037.1:p.Gly462=
XM_011511736.1:c.1349G=	XP_011510038.1:p.Gly450=
XM_011511744.1:c.*39G=	XP_011510046.1:n.*39G=
XM_011511750.1:c.1219G=	XP_011510052.1:p.Glu407=
XM_011511754.1:c.866G=	XP_011510056.1:p.Gly289=
XM_011511755.1:c.857G=	XP_011510057.1:p.Gly286=
XM_011511756.1:c.854G=	XP_011510058.1:p.Gly285=
XR_923004.1:n.1939G=
XR_923007.1:n.1649G=
XR_923011.1:n.1750G=
NM_001352824.1:c.746G=	NP_001339753.1:p.Gly249=
XM_011511734.2:c.1427G=	XP_011510036.1:p.Gly476=
XM_011511735.2:c.1385G=	XP_011510037.1:p.Gly462=
XM_011511736.2:c.1349G=	XP_011510038.1:p.Gly450=
XM_011511744.2:c.*39G=	XP_011510046.1:n.*39G=
XM_011511750.3:c.1219G=	XP_011510052.1:p.Glu407=
XM_011511756.2:c.854G=	XP_011510058.1:p.Gly285=
XM_024453102.1:c.1199G=	XP_024308870.1:p.Gly400=
XR_001738918.2:n.1681G=
XR_001738919.2:n.1615G=
XR_923004.3:n.1938G=
XR_923007.3:n.1648G=
XR_923011.3:n.1749G=
NM_152783.5:c.1307G= MANE Select	NP_689996.4:p.Gly436=
NM_001287249.2:c.905G=	NP_001274178.1:p.Gly302=
NM_001352824.2:c.746G=	NP_001339753.1:p.Gly249=
NR_109778.2:n.1178G=