Canonical Allele Identifier: CA1339776269
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241751330C= , CM000664.2:g.241751330C= GRCh38
NC_000002.11:g.242690745C= , CM000664.1:g.242690745C= GRCh37
NC_000002.10:g.242339418C= NCBI36
NG_012012.1:g.21716C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1082C= MANE Select ENSP00000315351.4:p.Ala361=
ENST00000321264.8:c.1082C= ENSP00000315351.4:p.Ala361=
ENST00000400769.6:c.854-4519C= ENSP00000383580.2:n.854-4519C=
ENST00000403782.5:c.680C= ENSP00000384723.1:p.Ala227=
ENST00000432449.1:c.342C=
ENST00000436747.5:c.*1398C= ENSP00000400212.1:n.*1398C=
ENST00000454048.1:c.185C= ENSP00000404596.1:p.Ala62=
ENST00000467427.5:n.389+1036C=
ENST00000470343.5:n.563C=
ENST00000473126.1:n.281C=
ENST00000486953.5:n.163+1036C=
ENST00000496252.5:n.437C=
NM_001287249.1:c.680C= NP_001274178.1:p.Ala227=
NM_152783.4:c.1082C= NP_689996.4:p.Ala361=
NR_109778.1:n.1063-4519C=
XM_011511734.1:c.1160C= XP_011510036.1:p.Ala387=
XM_011511735.1:c.1160C= XP_011510037.1:p.Ala387=
XM_011511736.1:c.1082C= XP_011510038.1:p.Ala361=
XM_011511737.1:c.1160C= XP_011510039.1:p.Ala387=
XM_011511742.1:c.1297C= XP_011510044.1:p.Arg433=
XM_011511743.1:c.1297C= XP_011510045.1:p.Arg433=
XM_011511744.1:c.1297C= XP_011510046.1:p.Arg433=
XM_011511745.1:c.1160C= XP_011510047.1:p.Ala387=
XM_011511748.1:c.1231C= XP_011510050.1:p.Arg411=
XM_011511749.1:c.1179+1036C= XP_011510051.1:n.1179+1036C=
XM_011511750.1:c.1160C= XP_011510052.1:p.Ala387=
XM_011511751.1:c.1212+751C= XP_011510053.1:n.1212+751C=
XM_011511753.1:c.1075+1036C= XP_011510055.1:n.1075+1036C=
XM_011511754.1:c.599C= XP_011510056.1:p.Ala200=
XM_011511755.1:c.590C= XP_011510057.1:p.Ala197=
XM_011511756.1:c.853+6453C= XP_011510058.1:n.853+6453C=
XM_011511757.1:c.*98C= XP_011510059.1:n.*98C=
XR_241434.3:n.1421C=
XR_923003.1:n.1943C=
XR_923004.1:n.1714C=
XR_923005.1:n.1457C=
XR_923006.1:n.1457C=
XR_923007.1:n.1424C=
XR_923008.1:n.1320C=
XR_923009.1:n.1320C=
XR_923010.1:n.1754C=
XR_923011.1:n.1525C=
XR_923012.1:n.1459C=
XR_923014.1:n.1014-4519C=
NM_001352824.1:c.521C= NP_001339753.1:p.Ala174=
XM_011511734.2:c.1160C= XP_011510036.1:p.Ala387=
XM_011511735.2:c.1160C= XP_011510037.1:p.Ala387=
XM_011511736.2:c.1082C= XP_011510038.1:p.Ala361=
XM_011511737.3:c.1160C= XP_011510039.1:p.Ala387=
XM_011511743.2:c.1297C= XP_011510045.1:p.Arg433=
XM_011511744.2:c.1297C= XP_011510046.1:p.Arg433=
XM_011511745.3:c.1160C= XP_011510047.1:p.Ala387=
XM_011511749.3:c.1179+1036C= XP_011510051.1:n.1179+1036C=
XM_011511750.3:c.1160C= XP_011510052.1:p.Ala387=
XM_011511751.2:c.1212+751C= XP_011510053.1:n.1212+751C=
XM_011511753.3:c.1075+1036C= XP_011510055.1:n.1075+1036C=
XM_011511756.2:c.853+6453C= XP_011510058.1:n.853+6453C=
XM_017004828.2:c.1082C= XP_016860317.1:p.Ala361=
XM_017004829.2:c.1297C= XP_016860318.1:p.Arg433=
XM_017004830.2:c.1160C= XP_016860319.1:p.Ala387=
XM_024453102.1:c.932C= XP_024308870.1:p.Ala311=
XR_001738918.2:n.1456C=
XR_001738919.2:n.1390C=
XR_002959334.1:n.1942C=
XR_002959335.1:n.1586C=
XR_241434.4:n.1420C=
XR_923004.3:n.1713C=
XR_923005.2:n.1456C=
XR_923007.3:n.1423C=
XR_923009.2:n.1319C=
XR_923010.2:n.1753C=
XR_923011.3:n.1524C=
XR_923012.2:n.1458C=
XR_923014.3:n.1013-4519C=
NM_152783.5:c.1082C= MANE Select NP_689996.4:p.Ala361=
NM_001287249.2:c.680C= NP_001274178.1:p.Ala227=
NM_001352824.2:c.521C= NP_001339753.1:p.Ala174=
NR_109778.2:n.1012-4519C=