Canonical Allele Identifier: CA351413150
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767807G>C , CM000664.2:g.241767807G>C GRCh38
NC_000002.11:g.242707222G>C , CM000664.1:g.242707222G>C GRCh37
NC_000002.10:g.242355895G>C NCBI36
NG_012012.1:g.38193G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1404G>C MANE Select ENSP00000315351.4:p.Gln468His
ENST00000321264.8:c.1404G>C ENSP00000315351.4:p.Gln468His
ENST00000400769.6:c.*154G>C ENSP00000383580.2:n.*154G>C
ENST00000403782.5:c.1002G>C ENSP00000384723.1:p.Gln334His
ENST00000436747.5:c.*2640G>C ENSP00000400212.1:n.*2640G>C
ENST00000445308.1:c.800G>C
ENST00000468064.5:n.1294G>C
ENST00000470343.5:n.885G>C
ENST00000473126.1:n.603G>C
ENST00000486953.5:n.1228G>C
ENST00000610344.1:c.*248G>C ENSP00000481906.1:n.*248G>C
NM_001287249.1:c.1002G>C NP_001274178.1:p.Gln334His
NM_152783.4:c.1404G>C NP_689996.4:p.Gln468His
NR_109778.1:n.1326G>C
XM_011511734.1:c.1524G>C XP_011510036.1:p.Gln508His
XM_011511735.1:c.1482G>C XP_011510037.1:p.Gln494His
XM_011511736.1:c.1446G>C XP_011510038.1:p.Gln482His
XM_011511750.1:c.*71G>C XP_011510052.1:n.*71G>C
XM_011511754.1:c.963G>C XP_011510056.1:p.Gln321His
XM_011511755.1:c.954G>C XP_011510057.1:p.Gln318His
XM_011511756.1:c.951G>C XP_011510058.1:p.Gln317His
XR_923004.1:n.2036G>C
XR_923007.1:n.1746G>C
XR_923011.1:n.1847G>C
NM_001352824.1:c.843G>C NP_001339753.1:p.Gln281His
XM_011511734.2:c.1524G>C XP_011510036.1:p.Gln508His
XM_011511735.2:c.1482G>C XP_011510037.1:p.Gln494His
XM_011511736.2:c.1446G>C XP_011510038.1:p.Gln482His
XM_011511750.3:c.*71G>C XP_011510052.1:n.*71G>C
XM_011511756.2:c.951G>C XP_011510058.1:p.Gln317His
XM_024453102.1:c.1296G>C XP_024308870.1:p.Gln432His
XR_001738918.2:n.1778G>C
XR_001738919.2:n.1712G>C
XR_923004.3:n.2035G>C
XR_923007.3:n.1745G>C
XR_923011.3:n.1846G>C
NM_152783.5:c.1404G>C MANE Select NP_689996.4:p.Gln468His
NM_001287249.2:c.1002G>C NP_001274178.1:p.Gln334His
NM_001352824.2:c.843G>C NP_001339753.1:p.Gln281His
NR_109778.2:n.1275G>C