Canonical Allele Identifier: CA1339784357

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767817G= , CM000664.2:g.241767817G=	GRCh38
NC_000002.11:g.242707232G= , CM000664.1:g.242707232G=	GRCh37
NC_000002.10:g.242355905G=	NCBI36
NG_012012.1:g.38203G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1414G= MANE Select	ENSP00000315351.4:p.Val472=
ENST00000321264.8:c.1414G=	ENSP00000315351.4:p.Val472=
ENST00000400769.6:c.*164G=	ENSP00000383580.2:n.*164G=
ENST00000403782.5:c.1012G=	ENSP00000384723.1:p.Val338=
ENST00000436747.5:c.*2650G=	ENSP00000400212.1:n.*2650G=
ENST00000445308.1:c.810G=
ENST00000468064.5:n.1304G=
ENST00000470343.5:n.895G=
ENST00000473126.1:n.613G=
ENST00000486953.5:n.1238G=
ENST00000610344.1:c.*258G=	ENSP00000481906.1:n.*258G=
NM_001287249.1:c.1012G=	NP_001274178.1:p.Val338=
NM_152783.4:c.1414G=	NP_689996.4:p.Val472=
NR_109778.1:n.1336G=
XM_011511734.1:c.1534G=	XP_011510036.1:p.Val512=
XM_011511735.1:c.1492G=	XP_011510037.1:p.Val498=
XM_011511736.1:c.1456G=	XP_011510038.1:p.Val486=
XM_011511750.1:c.*81G=	XP_011510052.1:n.*81G=
XM_011511754.1:c.973G=	XP_011510056.1:p.Val325=
XM_011511755.1:c.964G=	XP_011510057.1:p.Val322=
XM_011511756.1:c.961G=	XP_011510058.1:p.Val321=
XR_923004.1:n.2046G=
XR_923007.1:n.1756G=
XR_923011.1:n.1857G=
NM_001352824.1:c.853G=	NP_001339753.1:p.Val285=
XM_011511734.2:c.1534G=	XP_011510036.1:p.Val512=
XM_011511735.2:c.1492G=	XP_011510037.1:p.Val498=
XM_011511736.2:c.1456G=	XP_011510038.1:p.Val486=
XM_011511750.3:c.*81G=	XP_011510052.1:n.*81G=
XM_011511756.2:c.961G=	XP_011510058.1:p.Val321=
XM_024453102.1:c.1306G=	XP_024308870.1:p.Val436=
XR_001738918.2:n.1788G=
XR_001738919.2:n.1722G=
XR_923004.3:n.2045G=
XR_923007.3:n.1755G=
XR_923011.3:n.1856G=
NM_152783.5:c.1414G= MANE Select	NP_689996.4:p.Val472=
NM_001287249.2:c.1012G=	NP_001274178.1:p.Val338=
NM_001352824.2:c.853G=	NP_001339753.1:p.Val285=
NR_109778.2:n.1285G=