Canonical Allele Identifier: CA351413325
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767818T>G , CM000664.2:g.241767818T>G GRCh38
NC_000002.11:g.242707233T>G , CM000664.1:g.242707233T>G GRCh37
NC_000002.10:g.242355906T>G NCBI36
NG_012012.1:g.38204T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1415T>G MANE Select ENSP00000315351.4:p.Val472Gly
ENST00000321264.8:c.1415T>G ENSP00000315351.4:p.Val472Gly
ENST00000400769.6:c.*165T>G ENSP00000383580.2:n.*165T>G
ENST00000403782.5:c.1013T>G ENSP00000384723.1:p.Val338Gly
ENST00000436747.5:c.*2651T>G ENSP00000400212.1:n.*2651T>G
ENST00000445308.1:c.811T>G
ENST00000468064.5:n.1305T>G
ENST00000470343.5:n.896T>G
ENST00000473126.1:n.614T>G
ENST00000486953.5:n.1239T>G
ENST00000610344.1:c.*259T>G ENSP00000481906.1:n.*259T>G
NM_001287249.1:c.1013T>G NP_001274178.1:p.Val338Gly
NM_152783.4:c.1415T>G NP_689996.4:p.Val472Gly
NR_109778.1:n.1337T>G
XM_011511734.1:c.1535T>G XP_011510036.1:p.Val512Gly
XM_011511735.1:c.1493T>G XP_011510037.1:p.Val498Gly
XM_011511736.1:c.1457T>G XP_011510038.1:p.Val486Gly
XM_011511750.1:c.*82T>G XP_011510052.1:n.*82T>G
XM_011511754.1:c.974T>G XP_011510056.1:p.Val325Gly
XM_011511755.1:c.965T>G XP_011510057.1:p.Val322Gly
XM_011511756.1:c.962T>G XP_011510058.1:p.Val321Gly
XR_923004.1:n.2047T>G
XR_923007.1:n.1757T>G
XR_923011.1:n.1858T>G
NM_001352824.1:c.854T>G NP_001339753.1:p.Val285Gly
XM_011511734.2:c.1535T>G XP_011510036.1:p.Val512Gly
XM_011511735.2:c.1493T>G XP_011510037.1:p.Val498Gly
XM_011511736.2:c.1457T>G XP_011510038.1:p.Val486Gly
XM_011511750.3:c.*82T>G XP_011510052.1:n.*82T>G
XM_011511756.2:c.962T>G XP_011510058.1:p.Val321Gly
XM_024453102.1:c.1307T>G XP_024308870.1:p.Val436Gly
XR_001738918.2:n.1789T>G
XR_001738919.2:n.1723T>G
XR_923004.3:n.2046T>G
XR_923007.3:n.1756T>G
XR_923011.3:n.1857T>G
NM_152783.5:c.1415T>G MANE Select NP_689996.4:p.Val472Gly
NM_001287249.2:c.1013T>G NP_001274178.1:p.Val338Gly
NM_001352824.2:c.854T>G NP_001339753.1:p.Val285Gly
NR_109778.2:n.1286T>G