Canonical Allele Identifier: CA1339784405

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767917T= , CM000664.2:g.241767917T=	GRCh38
NC_000002.11:g.242707332T= , CM000664.1:g.242707332T=	GRCh37
NC_000002.10:g.242356005T=	NCBI36
NG_012012.1:g.38303T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1514T= MANE Select	ENSP00000315351.4:p.Leu505=
ENST00000321264.8:c.1514T=	ENSP00000315351.4:p.Leu505=
ENST00000400769.6:c.*264T=	ENSP00000383580.2:n.*264T=
ENST00000403782.5:c.1112T=	ENSP00000384723.1:p.Leu371=
ENST00000436747.5:c.*2750T=	ENSP00000400212.1:n.*2750T=
ENST00000445308.1:c.910T=
ENST00000468064.5:n.1404T=
ENST00000470343.5:n.995T=
ENST00000473126.1:n.713T=
ENST00000486953.5:n.1338T=
ENST00000610344.1:c.*358T=	ENSP00000481906.1:n.*358T=
NM_001287249.1:c.1112T=	NP_001274178.1:p.Leu371=
NM_152783.4:c.1514T=	NP_689996.4:p.Leu505=
NR_109778.1:n.1436T=
XM_011511734.1:c.1634T=	XP_011510036.1:p.Leu545=
XM_011511735.1:c.1592T=	XP_011510037.1:p.Leu531=
XM_011511736.1:c.1556T=	XP_011510038.1:p.Leu519=
XM_011511754.1:c.1073T=	XP_011510056.1:p.Leu358=
XM_011511755.1:c.1064T=	XP_011510057.1:p.Leu355=
XM_011511756.1:c.1061T=	XP_011510058.1:p.Leu354=
XR_923004.1:n.2146T=
XR_923007.1:n.1856T=
XR_923011.1:n.1957T=
NM_001352824.1:c.953T=	NP_001339753.1:p.Leu318=
XM_011511734.2:c.1634T=	XP_011510036.1:p.Leu545=
XM_011511735.2:c.1592T=	XP_011510037.1:p.Leu531=
XM_011511736.2:c.1556T=	XP_011510038.1:p.Leu519=
XM_011511756.2:c.1061T=	XP_011510058.1:p.Leu354=
XM_024453102.1:c.1406T=	XP_024308870.1:p.Leu469=
XR_001738918.2:n.1888T=
XR_001738919.2:n.1822T=
XR_923004.3:n.2145T=
XR_923007.3:n.1855T=
XR_923011.3:n.1956T=
NM_152783.5:c.1514T= MANE Select	NP_689996.4:p.Leu505=
NM_001287249.2:c.1112T=	NP_001274178.1:p.Leu371=
NM_001352824.2:c.953T=	NP_001339753.1:p.Leu318=
NR_109778.2:n.1385T=