Canonical Allele Identifier: CA1339784322

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767755C= , CM000664.2:g.241767755C=	GRCh38
NC_000002.11:g.242707170C= , CM000664.1:g.242707170C=	GRCh37
NC_000002.10:g.242355843C=	NCBI36
NG_012012.1:g.38141C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1352C= MANE Select	ENSP00000315351.4:p.Pro451=
ENST00000321264.8:c.1352C=	ENSP00000315351.4:p.Pro451=
ENST00000400769.6:c.*102C=	ENSP00000383580.2:n.*102C=
ENST00000403782.5:c.950C=	ENSP00000384723.1:p.Pro317=
ENST00000436747.5:c.*2588C=	ENSP00000400212.1:n.*2588C=
ENST00000445308.1:c.748C=
ENST00000468064.5:n.1242C=
ENST00000470343.5:n.833C=
ENST00000473126.1:n.551C=
ENST00000486953.5:n.1176C=
ENST00000610344.1:c.*196C=	ENSP00000481906.1:n.*196C=
NM_001287249.1:c.950C=	NP_001274178.1:p.Pro317=
NM_152783.4:c.1352C=	NP_689996.4:p.Pro451=
NR_109778.1:n.1274C=
XM_011511734.1:c.1472C=	XP_011510036.1:p.Pro491=
XM_011511735.1:c.1430C=	XP_011510037.1:p.Pro477=
XM_011511736.1:c.1394C=	XP_011510038.1:p.Pro465=
XM_011511744.1:c.*84C=	XP_011510046.1:n.*84C=
XM_011511750.1:c.*19C=	XP_011510052.1:n.*19C=
XM_011511754.1:c.911C=	XP_011510056.1:p.Pro304=
XM_011511755.1:c.902C=	XP_011510057.1:p.Pro301=
XM_011511756.1:c.899C=	XP_011510058.1:p.Pro300=
XR_923004.1:n.1984C=
XR_923007.1:n.1694C=
XR_923011.1:n.1795C=
NM_001352824.1:c.791C=	NP_001339753.1:p.Pro264=
XM_011511734.2:c.1472C=	XP_011510036.1:p.Pro491=
XM_011511735.2:c.1430C=	XP_011510037.1:p.Pro477=
XM_011511736.2:c.1394C=	XP_011510038.1:p.Pro465=
XM_011511744.2:c.*84C=	XP_011510046.1:n.*84C=
XM_011511750.3:c.*19C=	XP_011510052.1:n.*19C=
XM_011511756.2:c.899C=	XP_011510058.1:p.Pro300=
XM_024453102.1:c.1244C=	XP_024308870.1:p.Pro415=
XR_001738918.2:n.1726C=
XR_001738919.2:n.1660C=
XR_923004.3:n.1983C=
XR_923007.3:n.1693C=
XR_923011.3:n.1794C=
NM_152783.5:c.1352C= MANE Select	NP_689996.4:p.Pro451=
NM_001287249.2:c.950C=	NP_001274178.1:p.Pro317=
NM_001352824.2:c.791C=	NP_001339753.1:p.Pro264=
NR_109778.2:n.1223C=