Canonical Allele Identifier: CA351413157
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767809A>T , CM000664.2:g.241767809A>T GRCh38
NC_000002.11:g.242707224A>T , CM000664.1:g.242707224A>T GRCh37
NC_000002.10:g.242355897A>T NCBI36
NG_012012.1:g.38195A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1406A>T MANE Select ENSP00000315351.4:p.Gln469Leu
ENST00000321264.8:c.1406A>T ENSP00000315351.4:p.Gln469Leu
ENST00000400769.6:c.*156A>T ENSP00000383580.2:n.*156A>T
ENST00000403782.5:c.1004A>T ENSP00000384723.1:p.Gln335Leu
ENST00000436747.5:c.*2642A>T ENSP00000400212.1:n.*2642A>T
ENST00000445308.1:c.802A>T
ENST00000468064.5:n.1296A>T
ENST00000470343.5:n.887A>T
ENST00000473126.1:n.605A>T
ENST00000486953.5:n.1230A>T
ENST00000610344.1:c.*250A>T ENSP00000481906.1:n.*250A>T
NM_001287249.1:c.1004A>T NP_001274178.1:p.Gln335Leu
NM_152783.4:c.1406A>T NP_689996.4:p.Gln469Leu
NR_109778.1:n.1328A>T
XM_011511734.1:c.1526A>T XP_011510036.1:p.Gln509Leu
XM_011511735.1:c.1484A>T XP_011510037.1:p.Gln495Leu
XM_011511736.1:c.1448A>T XP_011510038.1:p.Gln483Leu
XM_011511750.1:c.*73A>T XP_011510052.1:n.*73A>T
XM_011511754.1:c.965A>T XP_011510056.1:p.Gln322Leu
XM_011511755.1:c.956A>T XP_011510057.1:p.Gln319Leu
XM_011511756.1:c.953A>T XP_011510058.1:p.Gln318Leu
XR_923004.1:n.2038A>T
XR_923007.1:n.1748A>T
XR_923011.1:n.1849A>T
NM_001352824.1:c.845A>T NP_001339753.1:p.Gln282Leu
XM_011511734.2:c.1526A>T XP_011510036.1:p.Gln509Leu
XM_011511735.2:c.1484A>T XP_011510037.1:p.Gln495Leu
XM_011511736.2:c.1448A>T XP_011510038.1:p.Gln483Leu
XM_011511750.3:c.*73A>T XP_011510052.1:n.*73A>T
XM_011511756.2:c.953A>T XP_011510058.1:p.Gln318Leu
XM_024453102.1:c.1298A>T XP_024308870.1:p.Gln433Leu
XR_001738918.2:n.1780A>T
XR_001738919.2:n.1714A>T
XR_923004.3:n.2037A>T
XR_923007.3:n.1747A>T
XR_923011.3:n.1848A>T
NM_152783.5:c.1406A>T MANE Select NP_689996.4:p.Gln469Leu
NM_001287249.2:c.1004A>T NP_001274178.1:p.Gln335Leu
NM_001352824.2:c.845A>T NP_001339753.1:p.Gln282Leu
NR_109778.2:n.1277A>T