Canonical Allele Identifier: CA1339784313

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767744G= , CM000664.2:g.241767744G=	GRCh38
NC_000002.11:g.242707159G= , CM000664.1:g.242707159G=	GRCh37
NC_000002.10:g.242355832G=	NCBI36
NG_012012.1:g.38130G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1341G= MANE Select	ENSP00000315351.4:p.Glu447=
ENST00000321264.8:c.1341G=	ENSP00000315351.4:p.Glu447=
ENST00000400769.6:c.*91G=	ENSP00000383580.2:n.*91G=
ENST00000403782.5:c.939G=	ENSP00000384723.1:p.Glu313=
ENST00000436747.5:c.*2577G=	ENSP00000400212.1:n.*2577G=
ENST00000445308.1:c.737G=
ENST00000468064.5:n.1231G=
ENST00000470343.5:n.822G=
ENST00000473126.1:n.540G=
ENST00000486953.5:n.1165G=
ENST00000610344.1:c.*185G=	ENSP00000481906.1:n.*185G=
NM_001287249.1:c.939G=	NP_001274178.1:p.Glu313=
NM_152783.4:c.1341G=	NP_689996.4:p.Glu447=
NR_109778.1:n.1263G=
XM_011511734.1:c.1461G=	XP_011510036.1:p.Glu487=
XM_011511735.1:c.1419G=	XP_011510037.1:p.Glu473=
XM_011511736.1:c.1383G=	XP_011510038.1:p.Glu461=
XM_011511744.1:c.*73G=	XP_011510046.1:n.*73G=
XM_011511750.1:c.*8G=	XP_011510052.1:n.*8G=
XM_011511754.1:c.900G=	XP_011510056.1:p.Glu300=
XM_011511755.1:c.891G=	XP_011510057.1:p.Glu297=
XM_011511756.1:c.888G=	XP_011510058.1:p.Glu296=
XR_923004.1:n.1973G=
XR_923007.1:n.1683G=
XR_923011.1:n.1784G=
NM_001352824.1:c.780G=	NP_001339753.1:p.Glu260=
XM_011511734.2:c.1461G=	XP_011510036.1:p.Glu487=
XM_011511735.2:c.1419G=	XP_011510037.1:p.Glu473=
XM_011511736.2:c.1383G=	XP_011510038.1:p.Glu461=
XM_011511744.2:c.*73G=	XP_011510046.1:n.*73G=
XM_011511750.3:c.*8G=	XP_011510052.1:n.*8G=
XM_011511756.2:c.888G=	XP_011510058.1:p.Glu296=
XM_024453102.1:c.1233G=	XP_024308870.1:p.Glu411=
XR_001738918.2:n.1715G=
XR_001738919.2:n.1649G=
XR_923004.3:n.1972G=
XR_923007.3:n.1682G=
XR_923011.3:n.1783G=
NM_152783.5:c.1341G= MANE Select	NP_689996.4:p.Glu447=
NM_001287249.2:c.939G=	NP_001274178.1:p.Glu313=
NM_001352824.2:c.780G=	NP_001339753.1:p.Glu260=
NR_109778.2:n.1212G=