Canonical Allele Identifier: CA351413330
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767820A>G , CM000664.2:g.241767820A>G GRCh38
NC_000002.11:g.242707235A>G , CM000664.1:g.242707235A>G GRCh37
NC_000002.10:g.242355908A>G NCBI36
NG_012012.1:g.38206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1417A>G MANE Select ENSP00000315351.4:p.Ser473Gly
ENST00000321264.8:c.1417A>G ENSP00000315351.4:p.Ser473Gly
ENST00000400769.6:c.*167A>G ENSP00000383580.2:n.*167A>G
ENST00000403782.5:c.1015A>G ENSP00000384723.1:p.Ser339Gly
ENST00000436747.5:c.*2653A>G ENSP00000400212.1:n.*2653A>G
ENST00000445308.1:c.813A>G
ENST00000468064.5:n.1307A>G
ENST00000470343.5:n.898A>G
ENST00000473126.1:n.616A>G
ENST00000486953.5:n.1241A>G
ENST00000610344.1:c.*261A>G ENSP00000481906.1:n.*261A>G
NM_001287249.1:c.1015A>G NP_001274178.1:p.Ser339Gly
NM_152783.4:c.1417A>G NP_689996.4:p.Ser473Gly
NR_109778.1:n.1339A>G
XM_011511734.1:c.1537A>G XP_011510036.1:p.Ser513Gly
XM_011511735.1:c.1495A>G XP_011510037.1:p.Ser499Gly
XM_011511736.1:c.1459A>G XP_011510038.1:p.Ser487Gly
XM_011511750.1:c.*84A>G XP_011510052.1:n.*84A>G
XM_011511754.1:c.976A>G XP_011510056.1:p.Ser326Gly
XM_011511755.1:c.967A>G XP_011510057.1:p.Ser323Gly
XM_011511756.1:c.964A>G XP_011510058.1:p.Ser322Gly
XR_923004.1:n.2049A>G
XR_923007.1:n.1759A>G
XR_923011.1:n.1860A>G
NM_001352824.1:c.856A>G NP_001339753.1:p.Ser286Gly
XM_011511734.2:c.1537A>G XP_011510036.1:p.Ser513Gly
XM_011511735.2:c.1495A>G XP_011510037.1:p.Ser499Gly
XM_011511736.2:c.1459A>G XP_011510038.1:p.Ser487Gly
XM_011511750.3:c.*84A>G XP_011510052.1:n.*84A>G
XM_011511756.2:c.964A>G XP_011510058.1:p.Ser322Gly
XM_024453102.1:c.1309A>G XP_024308870.1:p.Ser437Gly
XR_001738918.2:n.1791A>G
XR_001738919.2:n.1725A>G
XR_923004.3:n.2048A>G
XR_923007.3:n.1758A>G
XR_923011.3:n.1859A>G
NM_152783.5:c.1417A>G MANE Select NP_689996.4:p.Ser473Gly
NM_001287249.2:c.1015A>G NP_001274178.1:p.Ser339Gly
NM_001352824.2:c.856A>G NP_001339753.1:p.Ser286Gly
NR_109778.2:n.1288A>G