Canonical Allele Identifier: CA351413148
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767806A>C , CM000664.2:g.241767806A>C GRCh38
NC_000002.11:g.242707221A>C , CM000664.1:g.242707221A>C GRCh37
NC_000002.10:g.242355894A>C NCBI36
NG_012012.1:g.38192A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1403A>C MANE Select ENSP00000315351.4:p.Gln468Pro
ENST00000321264.8:c.1403A>C ENSP00000315351.4:p.Gln468Pro
ENST00000400769.6:c.*153A>C ENSP00000383580.2:n.*153A>C
ENST00000403782.5:c.1001A>C ENSP00000384723.1:p.Gln334Pro
ENST00000436747.5:c.*2639A>C ENSP00000400212.1:n.*2639A>C
ENST00000445308.1:c.799A>C
ENST00000468064.5:n.1293A>C
ENST00000470343.5:n.884A>C
ENST00000473126.1:n.602A>C
ENST00000486953.5:n.1227A>C
ENST00000610344.1:c.*247A>C ENSP00000481906.1:n.*247A>C
NM_001287249.1:c.1001A>C NP_001274178.1:p.Gln334Pro
NM_152783.4:c.1403A>C NP_689996.4:p.Gln468Pro
NR_109778.1:n.1325A>C
XM_011511734.1:c.1523A>C XP_011510036.1:p.Gln508Pro
XM_011511735.1:c.1481A>C XP_011510037.1:p.Gln494Pro
XM_011511736.1:c.1445A>C XP_011510038.1:p.Gln482Pro
XM_011511750.1:c.*70A>C XP_011510052.1:n.*70A>C
XM_011511754.1:c.962A>C XP_011510056.1:p.Gln321Pro
XM_011511755.1:c.953A>C XP_011510057.1:p.Gln318Pro
XM_011511756.1:c.950A>C XP_011510058.1:p.Gln317Pro
XR_923004.1:n.2035A>C
XR_923007.1:n.1745A>C
XR_923011.1:n.1846A>C
NM_001352824.1:c.842A>C NP_001339753.1:p.Gln281Pro
XM_011511734.2:c.1523A>C XP_011510036.1:p.Gln508Pro
XM_011511735.2:c.1481A>C XP_011510037.1:p.Gln494Pro
XM_011511736.2:c.1445A>C XP_011510038.1:p.Gln482Pro
XM_011511750.3:c.*70A>C XP_011510052.1:n.*70A>C
XM_011511756.2:c.950A>C XP_011510058.1:p.Gln317Pro
XM_024453102.1:c.1295A>C XP_024308870.1:p.Gln432Pro
XR_001738918.2:n.1777A>C
XR_001738919.2:n.1711A>C
XR_923004.3:n.2034A>C
XR_923007.3:n.1744A>C
XR_923011.3:n.1845A>C
NM_152783.5:c.1403A>C MANE Select NP_689996.4:p.Gln468Pro
NM_001287249.2:c.1001A>C NP_001274178.1:p.Gln334Pro
NM_001352824.2:c.842A>C NP_001339753.1:p.Gln281Pro
NR_109778.2:n.1274A>C