Canonical Allele Identifier: CA1339784169
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767521G= , CM000664.2:g.241767521G= GRCh38
NC_000002.11:g.242706936G= , CM000664.1:g.242706936G= GRCh37
NC_000002.10:g.242355609G= NCBI36
NG_012012.1:g.37907G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1307-189G= MANE Select ENSP00000315351.4:n.1307-189G=
ENST00000321264.8:c.1307-189G= ENSP00000315351.4:n.1307-189G=
ENST00000400769.6:c.*57-189G= ENSP00000383580.2:n.*57-189G=
ENST00000403782.5:c.905-189G= ENSP00000384723.1:n.905-189G=
ENST00000436747.5:c.*2543-189G= ENSP00000400212.1:n.*2543-189G=
ENST00000445308.1:c.703-189G=
ENST00000468064.5:n.1197-189G=
ENST00000470343.5:n.788-189G=
ENST00000473126.1:n.506-189G=
ENST00000486953.5:n.1134-192G=
ENST00000610344.1:c.*151-189G= ENSP00000481906.1:n.*151-189G=
NM_001287249.1:c.905-189G= NP_001274178.1:n.905-189G=
NM_152783.4:c.1307-189G= NP_689996.4:n.1307-189G=
NR_109778.1:n.1229-189G=
XM_011511734.1:c.1427-189G= XP_011510036.1:n.1427-189G=
XM_011511735.1:c.1385-189G= XP_011510037.1:n.1385-189G=
XM_011511736.1:c.1349-189G= XP_011510038.1:n.1349-189G=
XM_011511744.1:c.*39-189G= XP_011510046.1:n.*39-189G=
XM_011511750.1:c.1219-189G= XP_011510052.1:n.1219-189G=
XM_011511754.1:c.866-189G= XP_011510056.1:n.866-189G=
XM_011511755.1:c.857-189G= XP_011510057.1:n.857-189G=
XM_011511756.1:c.854-189G= XP_011510058.1:n.854-189G=
XR_923004.1:n.1939-189G=
XR_923007.1:n.1649-189G=
XR_923011.1:n.1750-189G=
NM_001352824.1:c.746-189G= NP_001339753.1:n.746-189G=
XM_011511734.2:c.1427-189G= XP_011510036.1:n.1427-189G=
XM_011511735.2:c.1385-189G= XP_011510037.1:n.1385-189G=
XM_011511736.2:c.1349-189G= XP_011510038.1:n.1349-189G=
XM_011511744.2:c.*39-189G= XP_011510046.1:n.*39-189G=
XM_011511750.3:c.1219-189G= XP_011510052.1:n.1219-189G=
XM_011511756.2:c.854-189G= XP_011510058.1:n.854-189G=
XM_024453102.1:c.1199-189G= XP_024308870.1:n.1199-189G=
XR_001738918.2:n.1681-189G=
XR_001738919.2:n.1615-189G=
XR_923004.3:n.1938-189G=
XR_923007.3:n.1648-189G=
XR_923011.3:n.1749-189G=
NM_152783.5:c.1307-189G= MANE Select NP_689996.4:n.1307-189G=
NM_001287249.2:c.905-189G= NP_001274178.1:n.905-189G=
NM_001352824.2:c.746-189G= NP_001339753.1:n.746-189G=
NR_109778.2:n.1178-189G=