Canonical Allele Identifier: CA351413298
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1411A>T MANE Select ENSP00000315351.4:p.Ser471Cys
ENST00000321264.8:c.1411A>T ENSP00000315351.4:p.Ser471Cys
ENST00000400769.6:c.*161A>T ENSP00000383580.2:n.*161A>T
ENST00000403782.5:c.1009A>T ENSP00000384723.1:p.Ser337Cys
ENST00000436747.5:c.*2647A>T ENSP00000400212.1:n.*2647A>T
ENST00000445308.1:c.807A>T
ENST00000468064.5:n.1301A>T
ENST00000470343.5:n.892A>T
ENST00000473126.1:n.610A>T
ENST00000486953.5:n.1235A>T
ENST00000610344.1:c.*255A>T ENSP00000481906.1:n.*255A>T
NM_001287249.1:c.1009A>T NP_001274178.1:p.Ser337Cys
NM_152783.4:c.1411A>T NP_689996.4:p.Ser471Cys
NR_109778.1:n.1333A>T
XM_011511734.1:c.1531A>T XP_011510036.1:p.Ser511Cys
XM_011511735.1:c.1489A>T XP_011510037.1:p.Ser497Cys
XM_011511736.1:c.1453A>T XP_011510038.1:p.Ser485Cys
XM_011511750.1:c.*78A>T XP_011510052.1:n.*78A>T
XM_011511754.1:c.970A>T XP_011510056.1:p.Ser324Cys
XM_011511755.1:c.961A>T XP_011510057.1:p.Ser321Cys
XM_011511756.1:c.958A>T XP_011510058.1:p.Ser320Cys
XR_923004.1:n.2043A>T
XR_923007.1:n.1753A>T
XR_923011.1:n.1854A>T
NM_001352824.1:c.850A>T NP_001339753.1:p.Ser284Cys
XM_011511734.2:c.1531A>T XP_011510036.1:p.Ser511Cys
XM_011511735.2:c.1489A>T XP_011510037.1:p.Ser497Cys
XM_011511736.2:c.1453A>T XP_011510038.1:p.Ser485Cys
XM_011511750.3:c.*78A>T XP_011510052.1:n.*78A>T
XM_011511756.2:c.958A>T XP_011510058.1:p.Ser320Cys
XM_024453102.1:c.1303A>T XP_024308870.1:p.Ser435Cys
XR_001738918.2:n.1785A>T
XR_001738919.2:n.1719A>T
XR_923004.3:n.2042A>T
XR_923007.3:n.1752A>T
XR_923011.3:n.1853A>T
NM_152783.5:c.1411A>T MANE Select NP_689996.4:p.Ser471Cys
NM_001287249.2:c.1009A>T NP_001274178.1:p.Ser337Cys
NM_001352824.2:c.850A>T NP_001339753.1:p.Ser284Cys
NR_109778.2:n.1282A>T