Canonical Allele Identifier: CA1339784348

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767802G= , CM000664.2:g.241767802G=	GRCh38
NC_000002.11:g.242707217G= , CM000664.1:g.242707217G=	GRCh37
NC_000002.10:g.242355890G=	NCBI36
NG_012012.1:g.38188G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1399G= MANE Select	ENSP00000315351.4:p.Gly467=
ENST00000321264.8:c.1399G=	ENSP00000315351.4:p.Gly467=
ENST00000400769.6:c.*149G=	ENSP00000383580.2:n.*149G=
ENST00000403782.5:c.997G=	ENSP00000384723.1:p.Gly333=
ENST00000436747.5:c.*2635G=	ENSP00000400212.1:n.*2635G=
ENST00000445308.1:c.795G=
ENST00000468064.5:n.1289G=
ENST00000470343.5:n.880G=
ENST00000473126.1:n.598G=
ENST00000486953.5:n.1223G=
ENST00000610344.1:c.*243G=	ENSP00000481906.1:n.*243G=
NM_001287249.1:c.997G=	NP_001274178.1:p.Gly333=
NM_152783.4:c.1399G=	NP_689996.4:p.Gly467=
NR_109778.1:n.1321G=
XM_011511734.1:c.1519G=	XP_011510036.1:p.Gly507=
XM_011511735.1:c.1477G=	XP_011510037.1:p.Gly493=
XM_011511736.1:c.1441G=	XP_011510038.1:p.Gly481=
XM_011511750.1:c.*66G=	XP_011510052.1:n.*66G=
XM_011511754.1:c.958G=	XP_011510056.1:p.Gly320=
XM_011511755.1:c.949G=	XP_011510057.1:p.Gly317=
XM_011511756.1:c.946G=	XP_011510058.1:p.Gly316=
XR_923004.1:n.2031G=
XR_923007.1:n.1741G=
XR_923011.1:n.1842G=
NM_001352824.1:c.838G=	NP_001339753.1:p.Gly280=
XM_011511734.2:c.1519G=	XP_011510036.1:p.Gly507=
XM_011511735.2:c.1477G=	XP_011510037.1:p.Gly493=
XM_011511736.2:c.1441G=	XP_011510038.1:p.Gly481=
XM_011511750.3:c.*66G=	XP_011510052.1:n.*66G=
XM_011511756.2:c.946G=	XP_011510058.1:p.Gly316=
XM_024453102.1:c.1291G=	XP_024308870.1:p.Gly431=
XR_001738918.2:n.1773G=
XR_001738919.2:n.1707G=
XR_923004.3:n.2030G=
XR_923007.3:n.1740G=
XR_923011.3:n.1841G=
NM_152783.5:c.1399G= MANE Select	NP_689996.4:p.Gly467=
NM_001287249.2:c.997G=	NP_001274178.1:p.Gly333=
NM_001352824.2:c.838G=	NP_001339753.1:p.Gly280=
NR_109778.2:n.1270G=