Canonical Allele Identifier: CA1339784321

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767754C= , CM000664.2:g.241767754C=	GRCh38
NC_000002.11:g.242707169C= , CM000664.1:g.242707169C=	GRCh37
NC_000002.10:g.242355842C=	NCBI36
NG_012012.1:g.38140C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1351C= MANE Select	ENSP00000315351.4:p.Pro451=
ENST00000321264.8:c.1351C=	ENSP00000315351.4:p.Pro451=
ENST00000400769.6:c.*101C=	ENSP00000383580.2:n.*101C=
ENST00000403782.5:c.949C=	ENSP00000384723.1:p.Pro317=
ENST00000436747.5:c.*2587C=	ENSP00000400212.1:n.*2587C=
ENST00000445308.1:c.747C=
ENST00000468064.5:n.1241C=
ENST00000470343.5:n.832C=
ENST00000473126.1:n.550C=
ENST00000486953.5:n.1175C=
ENST00000610344.1:c.*195C=	ENSP00000481906.1:n.*195C=
NM_001287249.1:c.949C=	NP_001274178.1:p.Pro317=
NM_152783.4:c.1351C=	NP_689996.4:p.Pro451=
NR_109778.1:n.1273C=
XM_011511734.1:c.1471C=	XP_011510036.1:p.Pro491=
XM_011511735.1:c.1429C=	XP_011510037.1:p.Pro477=
XM_011511736.1:c.1393C=	XP_011510038.1:p.Pro465=
XM_011511744.1:c.*83C=	XP_011510046.1:n.*83C=
XM_011511750.1:c.*18C=	XP_011510052.1:n.*18C=
XM_011511754.1:c.910C=	XP_011510056.1:p.Pro304=
XM_011511755.1:c.901C=	XP_011510057.1:p.Pro301=
XM_011511756.1:c.898C=	XP_011510058.1:p.Pro300=
XR_923004.1:n.1983C=
XR_923007.1:n.1693C=
XR_923011.1:n.1794C=
NM_001352824.1:c.790C=	NP_001339753.1:p.Pro264=
XM_011511734.2:c.1471C=	XP_011510036.1:p.Pro491=
XM_011511735.2:c.1429C=	XP_011510037.1:p.Pro477=
XM_011511736.2:c.1393C=	XP_011510038.1:p.Pro465=
XM_011511744.2:c.*83C=	XP_011510046.1:n.*83C=
XM_011511750.3:c.*18C=	XP_011510052.1:n.*18C=
XM_011511756.2:c.898C=	XP_011510058.1:p.Pro300=
XM_024453102.1:c.1243C=	XP_024308870.1:p.Pro415=
XR_001738918.2:n.1725C=
XR_001738919.2:n.1659C=
XR_923004.3:n.1982C=
XR_923007.3:n.1692C=
XR_923011.3:n.1793C=
NM_152783.5:c.1351C= MANE Select	NP_689996.4:p.Pro451=
NM_001287249.2:c.949C=	NP_001274178.1:p.Pro317=
NM_001352824.2:c.790C=	NP_001339753.1:p.Pro264=
NR_109778.2:n.1222C=