Canonical Allele Identifier: CA1339784342

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767797C= , CM000664.2:g.241767797C=	GRCh38
NC_000002.11:g.242707212C= , CM000664.1:g.242707212C=	GRCh37
NC_000002.10:g.242355885C=	NCBI36
NG_012012.1:g.38183C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1394C= MANE Select	ENSP00000315351.4:p.Thr465=
ENST00000321264.8:c.1394C=	ENSP00000315351.4:p.Thr465=
ENST00000400769.6:c.*144C=	ENSP00000383580.2:n.*144C=
ENST00000403782.5:c.992C=	ENSP00000384723.1:p.Thr331=
ENST00000436747.5:c.*2630C=	ENSP00000400212.1:n.*2630C=
ENST00000445308.1:c.790C=
ENST00000468064.5:n.1284C=
ENST00000470343.5:n.875C=
ENST00000473126.1:n.593C=
ENST00000486953.5:n.1218C=
ENST00000610344.1:c.*238C=	ENSP00000481906.1:n.*238C=
NM_001287249.1:c.992C=	NP_001274178.1:p.Thr331=
NM_152783.4:c.1394C=	NP_689996.4:p.Thr465=
NR_109778.1:n.1316C=
XM_011511734.1:c.1514C=	XP_011510036.1:p.Thr505=
XM_011511735.1:c.1472C=	XP_011510037.1:p.Thr491=
XM_011511736.1:c.1436C=	XP_011510038.1:p.Thr479=
XM_011511744.1:c.*126C=	XP_011510046.1:n.*126C=
XM_011511750.1:c.*61C=	XP_011510052.1:n.*61C=
XM_011511754.1:c.953C=	XP_011510056.1:p.Thr318=
XM_011511755.1:c.944C=	XP_011510057.1:p.Thr315=
XM_011511756.1:c.941C=	XP_011510058.1:p.Thr314=
XR_923004.1:n.2026C=
XR_923007.1:n.1736C=
XR_923011.1:n.1837C=
NM_001352824.1:c.833C=	NP_001339753.1:p.Thr278=
XM_011511734.2:c.1514C=	XP_011510036.1:p.Thr505=
XM_011511735.2:c.1472C=	XP_011510037.1:p.Thr491=
XM_011511736.2:c.1436C=	XP_011510038.1:p.Thr479=
XM_011511750.3:c.*61C=	XP_011510052.1:n.*61C=
XM_011511756.2:c.941C=	XP_011510058.1:p.Thr314=
XM_024453102.1:c.1286C=	XP_024308870.1:p.Thr429=
XR_001738918.2:n.1768C=
XR_001738919.2:n.1702C=
XR_923004.3:n.2025C=
XR_923007.3:n.1735C=
XR_923011.3:n.1836C=
NM_152783.5:c.1394C= MANE Select	NP_689996.4:p.Thr465=
NM_001287249.2:c.992C=	NP_001274178.1:p.Thr331=
NM_001352824.2:c.833C=	NP_001339753.1:p.Thr278=
NR_109778.2:n.1265C=