Canonical Allele Identifier: CA1339784310

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767740C= , CM000664.2:g.241767740C=	GRCh38
NC_000002.11:g.242707155C= , CM000664.1:g.242707155C=	GRCh37
NC_000002.10:g.242355828C=	NCBI36
NG_012012.1:g.38126C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1337C= MANE Select	ENSP00000315351.4:p.Ala446=
ENST00000321264.8:c.1337C=	ENSP00000315351.4:p.Ala446=
ENST00000400769.6:c.*87C=	ENSP00000383580.2:n.*87C=
ENST00000403782.5:c.935C=	ENSP00000384723.1:p.Ala312=
ENST00000436747.5:c.*2573C=	ENSP00000400212.1:n.*2573C=
ENST00000445308.1:c.733C=
ENST00000468064.5:n.1227C=
ENST00000470343.5:n.818C=
ENST00000473126.1:n.536C=
ENST00000486953.5:n.1161C=
ENST00000610344.1:c.*181C=	ENSP00000481906.1:n.*181C=
NM_001287249.1:c.935C=	NP_001274178.1:p.Ala312=
NM_152783.4:c.1337C=	NP_689996.4:p.Ala446=
NR_109778.1:n.1259C=
XM_011511734.1:c.1457C=	XP_011510036.1:p.Ala486=
XM_011511735.1:c.1415C=	XP_011510037.1:p.Ala472=
XM_011511736.1:c.1379C=	XP_011510038.1:p.Ala460=
XM_011511744.1:c.*69C=	XP_011510046.1:n.*69C=
XM_011511750.1:c.*4C=	XP_011510052.1:n.*4C=
XM_011511754.1:c.896C=	XP_011510056.1:p.Ala299=
XM_011511755.1:c.887C=	XP_011510057.1:p.Ala296=
XM_011511756.1:c.884C=	XP_011510058.1:p.Ala295=
XR_923004.1:n.1969C=
XR_923007.1:n.1679C=
XR_923011.1:n.1780C=
NM_001352824.1:c.776C=	NP_001339753.1:p.Ala259=
XM_011511734.2:c.1457C=	XP_011510036.1:p.Ala486=
XM_011511735.2:c.1415C=	XP_011510037.1:p.Ala472=
XM_011511736.2:c.1379C=	XP_011510038.1:p.Ala460=
XM_011511744.2:c.*69C=	XP_011510046.1:n.*69C=
XM_011511750.3:c.*4C=	XP_011510052.1:n.*4C=
XM_011511756.2:c.884C=	XP_011510058.1:p.Ala295=
XM_024453102.1:c.1229C=	XP_024308870.1:p.Ala410=
XR_001738918.2:n.1711C=
XR_001738919.2:n.1645C=
XR_923004.3:n.1968C=
XR_923007.3:n.1678C=
XR_923011.3:n.1779C=
NM_152783.5:c.1337C= MANE Select	NP_689996.4:p.Ala446=
NM_001287249.2:c.935C=	NP_001274178.1:p.Ala312=
NM_001352824.2:c.776C=	NP_001339753.1:p.Ala259=
NR_109778.2:n.1208C=