Canonical Allele Identifier: CA1339784339

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767793T= , CM000664.2:g.241767793T=	GRCh38
NC_000002.11:g.242707208T= , CM000664.1:g.242707208T=	GRCh37
NC_000002.10:g.242355881T=	NCBI36
NG_012012.1:g.38179T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1390T= MANE Select	ENSP00000315351.4:p.Trp464=
ENST00000321264.8:c.1390T=	ENSP00000315351.4:p.Trp464=
ENST00000400769.6:c.*140T=	ENSP00000383580.2:n.*140T=
ENST00000403782.5:c.988T=	ENSP00000384723.1:p.Trp330=
ENST00000436747.5:c.*2626T=	ENSP00000400212.1:n.*2626T=
ENST00000445308.1:c.786T=
ENST00000468064.5:n.1280T=
ENST00000470343.5:n.871T=
ENST00000473126.1:n.589T=
ENST00000486953.5:n.1214T=
ENST00000610344.1:c.*234T=	ENSP00000481906.1:n.*234T=
NM_001287249.1:c.988T=	NP_001274178.1:p.Trp330=
NM_152783.4:c.1390T=	NP_689996.4:p.Trp464=
NR_109778.1:n.1312T=
XM_011511734.1:c.1510T=	XP_011510036.1:p.Trp504=
XM_011511735.1:c.1468T=	XP_011510037.1:p.Trp490=
XM_011511736.1:c.1432T=	XP_011510038.1:p.Trp478=
XM_011511744.1:c.*122T=	XP_011510046.1:n.*122T=
XM_011511750.1:c.*57T=	XP_011510052.1:n.*57T=
XM_011511754.1:c.949T=	XP_011510056.1:p.Trp317=
XM_011511755.1:c.940T=	XP_011510057.1:p.Trp314=
XM_011511756.1:c.937T=	XP_011510058.1:p.Trp313=
XR_923004.1:n.2022T=
XR_923007.1:n.1732T=
XR_923011.1:n.1833T=
NM_001352824.1:c.829T=	NP_001339753.1:p.Trp277=
XM_011511734.2:c.1510T=	XP_011510036.1:p.Trp504=
XM_011511735.2:c.1468T=	XP_011510037.1:p.Trp490=
XM_011511736.2:c.1432T=	XP_011510038.1:p.Trp478=
XM_011511750.3:c.*57T=	XP_011510052.1:n.*57T=
XM_011511756.2:c.937T=	XP_011510058.1:p.Trp313=
XM_024453102.1:c.1282T=	XP_024308870.1:p.Trp428=
XR_001738918.2:n.1764T=
XR_001738919.2:n.1698T=
XR_923004.3:n.2021T=
XR_923007.3:n.1731T=
XR_923011.3:n.1832T=
NM_152783.5:c.1390T= MANE Select	NP_689996.4:p.Trp464=
NM_001287249.2:c.988T=	NP_001274178.1:p.Trp330=
NM_001352824.2:c.829T=	NP_001339753.1:p.Trp277=
NR_109778.2:n.1261T=