Canonical Allele Identifier: CA351413296
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767814A>G , CM000664.2:g.241767814A>G GRCh38
NC_000002.11:g.242707229A>G , CM000664.1:g.242707229A>G GRCh37
NC_000002.10:g.242355902A>G NCBI36
NG_012012.1:g.38200A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1411A>G MANE Select ENSP00000315351.4:p.Ser471Gly
ENST00000321264.8:c.1411A>G ENSP00000315351.4:p.Ser471Gly
ENST00000400769.6:c.*161A>G ENSP00000383580.2:n.*161A>G
ENST00000403782.5:c.1009A>G ENSP00000384723.1:p.Ser337Gly
ENST00000436747.5:c.*2647A>G ENSP00000400212.1:n.*2647A>G
ENST00000445308.1:c.807A>G
ENST00000468064.5:n.1301A>G
ENST00000470343.5:n.892A>G
ENST00000473126.1:n.610A>G
ENST00000486953.5:n.1235A>G
ENST00000610344.1:c.*255A>G ENSP00000481906.1:n.*255A>G
NM_001287249.1:c.1009A>G NP_001274178.1:p.Ser337Gly
NM_152783.4:c.1411A>G NP_689996.4:p.Ser471Gly
NR_109778.1:n.1333A>G
XM_011511734.1:c.1531A>G XP_011510036.1:p.Ser511Gly
XM_011511735.1:c.1489A>G XP_011510037.1:p.Ser497Gly
XM_011511736.1:c.1453A>G XP_011510038.1:p.Ser485Gly
XM_011511750.1:c.*78A>G XP_011510052.1:n.*78A>G
XM_011511754.1:c.970A>G XP_011510056.1:p.Ser324Gly
XM_011511755.1:c.961A>G XP_011510057.1:p.Ser321Gly
XM_011511756.1:c.958A>G XP_011510058.1:p.Ser320Gly
XR_923004.1:n.2043A>G
XR_923007.1:n.1753A>G
XR_923011.1:n.1854A>G
NM_001352824.1:c.850A>G NP_001339753.1:p.Ser284Gly
XM_011511734.2:c.1531A>G XP_011510036.1:p.Ser511Gly
XM_011511735.2:c.1489A>G XP_011510037.1:p.Ser497Gly
XM_011511736.2:c.1453A>G XP_011510038.1:p.Ser485Gly
XM_011511750.3:c.*78A>G XP_011510052.1:n.*78A>G
XM_011511756.2:c.958A>G XP_011510058.1:p.Ser320Gly
XM_024453102.1:c.1303A>G XP_024308870.1:p.Ser435Gly
XR_001738918.2:n.1785A>G
XR_001738919.2:n.1719A>G
XR_923004.3:n.2042A>G
XR_923007.3:n.1752A>G
XR_923011.3:n.1853A>G
NM_152783.5:c.1411A>G MANE Select NP_689996.4:p.Ser471Gly
NM_001287249.2:c.1009A>G NP_001274178.1:p.Ser337Gly
NM_001352824.2:c.850A>G NP_001339753.1:p.Ser284Gly
NR_109778.2:n.1282A>G