Canonical Allele Identifier: CA10615031

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241768657G>A , CM000664.2:g.241768657G>A	GRCh38
NC_000002.11:g.242708072G>A , CM000664.1:g.242708072G>A	GRCh37
NC_000002.10:g.242356745G>A	NCBI36
NG_012012.1:g.39043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.*688G>A MANE Select	ENSP00000315351.4:n.*688G>A
ENST00000321264.8:c.*688G>A	ENSP00000315351.4:n.*688G>A
ENST00000400769.6:c.*1004G>A	ENSP00000383580.2:n.*1004G>A
ENST00000403782.5:c.*688G>A	ENSP00000384723.1:n.*688G>A
ENST00000436747.5:c.*3490G>A	ENSP00000400212.1:n.*3490G>A
ENST00000468064.5:n.2144G>A
ENST00000473126.1:n.1453G>A
ENST00000486953.5:n.2078G>A
ENST00000610344.1:c.*1098G>A	ENSP00000481906.1:n.*1098G>A
NM_001287249.1:c.*688G>A	NP_001274178.1:n.*688G>A
NM_152783.4:c.*688G>A	NP_689996.4:n.*688G>A
NR_109778.1:n.2176G>A
XM_011511734.1:c.*688G>A	XP_011510036.1:n.*688G>A
XM_011511735.1:c.*688G>A	XP_011510037.1:n.*688G>A
XM_011511736.1:c.*688G>A	XP_011510038.1:n.*688G>A
XM_011511754.1:c.*688G>A	XP_011510056.1:n.*688G>A
XM_011511755.1:c.*688G>A	XP_011510057.1:n.*688G>A
XM_011511756.1:c.*688G>A	XP_011510058.1:n.*688G>A
NM_001352824.1:c.*688G>A	NP_001339753.1:n.*688G>A
XM_011511734.2:c.*688G>A	XP_011510036.1:n.*688G>A
XM_011511735.2:c.*688G>A	XP_011510037.1:n.*688G>A
XM_011511736.2:c.*688G>A	XP_011510038.1:n.*688G>A
XM_011511756.2:c.*688G>A	XP_011510058.1:n.*688G>A
XM_024453102.1:c.*688G>A	XP_024308870.1:n.*688G>A
XR_001738918.2:n.2628G>A
XR_001738919.2:n.2562G>A
XR_923004.3:n.2885G>A
XR_923007.3:n.2595G>A
XR_923011.3:n.2696G>A
NM_152783.5:c.*688G>A MANE Select	NP_689996.4:n.*688G>A
NM_001287249.2:c.*688G>A	NP_001274178.1:n.*688G>A
NM_001352824.2:c.*688G>A	NP_001339753.1:n.*688G>A
NR_109778.2:n.2125G>A