Canonical Allele Identifier: CA1339784308

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767737C= , CM000664.2:g.241767737C=	GRCh38
NC_000002.11:g.242707152C= , CM000664.1:g.242707152C=	GRCh37
NC_000002.10:g.242355825C=	NCBI36
NG_012012.1:g.38123C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1334C= MANE Select	ENSP00000315351.4:p.Thr445=
ENST00000321264.8:c.1334C=	ENSP00000315351.4:p.Thr445=
ENST00000400769.6:c.*84C=	ENSP00000383580.2:n.*84C=
ENST00000403782.5:c.932C=	ENSP00000384723.1:p.Thr311=
ENST00000436747.5:c.*2570C=	ENSP00000400212.1:n.*2570C=
ENST00000445308.1:c.730C=
ENST00000468064.5:n.1224C=
ENST00000470343.5:n.815C=
ENST00000473126.1:n.533C=
ENST00000486953.5:n.1158C=
ENST00000610344.1:c.*178C=	ENSP00000481906.1:n.*178C=
NM_001287249.1:c.932C=	NP_001274178.1:p.Thr311=
NM_152783.4:c.1334C=	NP_689996.4:p.Thr445=
NR_109778.1:n.1256C=
XM_011511734.1:c.1454C=	XP_011510036.1:p.Thr485=
XM_011511735.1:c.1412C=	XP_011510037.1:p.Thr471=
XM_011511736.1:c.1376C=	XP_011510038.1:p.Thr459=
XM_011511744.1:c.*66C=	XP_011510046.1:n.*66C=
XM_011511750.1:c.*1C=	XP_011510052.1:n.*1C=
XM_011511754.1:c.893C=	XP_011510056.1:p.Thr298=
XM_011511755.1:c.884C=	XP_011510057.1:p.Thr295=
XM_011511756.1:c.881C=	XP_011510058.1:p.Thr294=
XR_923004.1:n.1966C=
XR_923007.1:n.1676C=
XR_923011.1:n.1777C=
NM_001352824.1:c.773C=	NP_001339753.1:p.Thr258=
XM_011511734.2:c.1454C=	XP_011510036.1:p.Thr485=
XM_011511735.2:c.1412C=	XP_011510037.1:p.Thr471=
XM_011511736.2:c.1376C=	XP_011510038.1:p.Thr459=
XM_011511744.2:c.*66C=	XP_011510046.1:n.*66C=
XM_011511750.3:c.*1C=	XP_011510052.1:n.*1C=
XM_011511756.2:c.881C=	XP_011510058.1:p.Thr294=
XM_024453102.1:c.1226C=	XP_024308870.1:p.Thr409=
XR_001738918.2:n.1708C=
XR_001738919.2:n.1642C=
XR_923004.3:n.1965C=
XR_923007.3:n.1675C=
XR_923011.3:n.1776C=
NM_152783.5:c.1334C= MANE Select	NP_689996.4:p.Thr445=
NM_001287249.2:c.932C=	NP_001274178.1:p.Thr311=
NM_001352824.2:c.773C=	NP_001339753.1:p.Thr258=
NR_109778.2:n.1205C=