Canonical Allele Identifier: CA68571546
Gene: D2HGDH HGNC NCBI

Linked Data

dbSNP Id: rs931925129

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767800C>T , CM000664.2:g.241767800C>T GRCh38
NC_000002.11:g.242707215C>T , CM000664.1:g.242707215C>T GRCh37
NC_000002.10:g.242355888C>T NCBI36
NG_012012.1:g.38186C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1397C>T MANE Select ENSP00000315351.4:p.Ala466Val
ENST00000321264.8:c.1397C>T ENSP00000315351.4:p.Ala466Val
ENST00000400769.6:c.*147C>T ENSP00000383580.2:n.*147C>T
ENST00000403782.5:c.995C>T ENSP00000384723.1:p.Ala332Val
ENST00000436747.5:c.*2633C>T ENSP00000400212.1:n.*2633C>T
ENST00000445308.1:c.793C>T
ENST00000468064.5:n.1287C>T
ENST00000470343.5:n.878C>T
ENST00000473126.1:n.596C>T
ENST00000486953.5:n.1221C>T
ENST00000610344.1:c.*241C>T ENSP00000481906.1:n.*241C>T
NM_001287249.1:c.995C>T NP_001274178.1:p.Ala332Val
NM_152783.4:c.1397C>T NP_689996.4:p.Ala466Val
NR_109778.1:n.1319C>T
XM_011511734.1:c.1517C>T XP_011510036.1:p.Ala506Val
XM_011511735.1:c.1475C>T XP_011510037.1:p.Ala492Val
XM_011511736.1:c.1439C>T XP_011510038.1:p.Ala480Val
XM_011511750.1:c.*64C>T XP_011510052.1:n.*64C>T
XM_011511754.1:c.956C>T XP_011510056.1:p.Ala319Val
XM_011511755.1:c.947C>T XP_011510057.1:p.Ala316Val
XM_011511756.1:c.944C>T XP_011510058.1:p.Ala315Val
XR_923004.1:n.2029C>T
XR_923007.1:n.1739C>T
XR_923011.1:n.1840C>T
NM_001352824.1:c.836C>T NP_001339753.1:p.Ala279Val
XM_011511734.2:c.1517C>T XP_011510036.1:p.Ala506Val
XM_011511735.2:c.1475C>T XP_011510037.1:p.Ala492Val
XM_011511736.2:c.1439C>T XP_011510038.1:p.Ala480Val
XM_011511750.3:c.*64C>T XP_011510052.1:n.*64C>T
XM_011511756.2:c.944C>T XP_011510058.1:p.Ala315Val
XM_024453102.1:c.1289C>T XP_024308870.1:p.Ala430Val
XR_001738918.2:n.1771C>T
XR_001738919.2:n.1705C>T
XR_923004.3:n.2028C>T
XR_923007.3:n.1738C>T
XR_923011.3:n.1839C>T
NM_152783.5:c.1397C>T MANE Select NP_689996.4:p.Ala466Val
NM_001287249.2:c.995C>T NP_001274178.1:p.Ala332Val
NM_001352824.2:c.836C>T NP_001339753.1:p.Ala279Val
NR_109778.2:n.1268C>T