Canonical Allele Identifier: CA1339776248

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751283C= , CM000664.2:g.241751283C=	GRCh38
NC_000002.11:g.242690698C= , CM000664.1:g.242690698C=	GRCh37
NC_000002.10:g.242339371C=	NCBI36
NG_012012.1:g.21669C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1035C= MANE Select	ENSP00000315351.4:p.Ser345=
ENST00000321264.8:c.1035C=	ENSP00000315351.4:p.Ser345=
ENST00000400769.6:c.854-4566C=	ENSP00000383580.2:n.854-4566C=
ENST00000403782.5:c.633C=	ENSP00000384723.1:p.Ser211=
ENST00000432449.1:c.295C=
ENST00000436747.5:c.*1351C=	ENSP00000400212.1:n.*1351C=
ENST00000454048.1:c.138C=	ENSP00000404596.1:p.Ser46=
ENST00000467427.5:n.389+989C=
ENST00000470343.5:n.516C=
ENST00000473126.1:n.234C=
ENST00000486953.5:n.163+989C=
ENST00000496252.5:n.390C=
NM_001287249.1:c.633C=	NP_001274178.1:p.Ser211=
NM_152783.4:c.1035C=	NP_689996.4:p.Ser345=
NR_109778.1:n.1063-4566C=
XM_011511734.1:c.1113C=	XP_011510036.1:p.Ser371=
XM_011511735.1:c.1113C=	XP_011510037.1:p.Ser371=
XM_011511736.1:c.1035C=	XP_011510038.1:p.Ser345=
XM_011511737.1:c.1113C=	XP_011510039.1:p.Ser371=
XM_011511742.1:c.1250C=	XP_011510044.1:p.Pro417=
XM_011511743.1:c.1250C=	XP_011510045.1:p.Pro417=
XM_011511744.1:c.1250C=	XP_011510046.1:p.Pro417=
XM_011511745.1:c.1113C=	XP_011510047.1:p.Ser371=
XM_011511748.1:c.1184C=	XP_011510050.1:p.Pro395=
XM_011511749.1:c.1179+989C=	XP_011510051.1:n.1179+989C=
XM_011511750.1:c.1113C=	XP_011510052.1:p.Ser371=
XM_011511751.1:c.1212+704C=	XP_011510053.1:n.1212+704C=
XM_011511753.1:c.1075+989C=	XP_011510055.1:n.1075+989C=
XM_011511754.1:c.552C=	XP_011510056.1:p.Ser184=
XM_011511755.1:c.543C=	XP_011510057.1:p.Ser181=
XM_011511756.1:c.853+6406C=	XP_011510058.1:n.853+6406C=
XM_011511757.1:c.*51C=	XP_011510059.1:n.*51C=
XR_241434.3:n.1374C=
XR_923003.1:n.1896C=
XR_923004.1:n.1667C=
XR_923005.1:n.1410C=
XR_923006.1:n.1410C=
XR_923007.1:n.1377C=
XR_923008.1:n.1273C=
XR_923009.1:n.1273C=
XR_923010.1:n.1707C=
XR_923011.1:n.1478C=
XR_923012.1:n.1412C=
XR_923014.1:n.1014-4566C=
NM_001352824.1:c.474C=	NP_001339753.1:p.Ser158=
XM_011511734.2:c.1113C=	XP_011510036.1:p.Ser371=
XM_011511735.2:c.1113C=	XP_011510037.1:p.Ser371=
XM_011511736.2:c.1035C=	XP_011510038.1:p.Ser345=
XM_011511737.3:c.1113C=	XP_011510039.1:p.Ser371=
XM_011511743.2:c.1250C=	XP_011510045.1:p.Pro417=
XM_011511744.2:c.1250C=	XP_011510046.1:p.Pro417=
XM_011511745.3:c.1113C=	XP_011510047.1:p.Ser371=
XM_011511749.3:c.1179+989C=	XP_011510051.1:n.1179+989C=
XM_011511750.3:c.1113C=	XP_011510052.1:p.Ser371=
XM_011511751.2:c.1212+704C=	XP_011510053.1:n.1212+704C=
XM_011511753.3:c.1075+989C=	XP_011510055.1:n.1075+989C=
XM_011511756.2:c.853+6406C=	XP_011510058.1:n.853+6406C=
XM_011511757.3:c.*51C=	XP_011510059.1:n.*51C=
XM_017004828.2:c.1035C=	XP_016860317.1:p.Ser345=
XM_017004829.2:c.1250C=	XP_016860318.1:p.Pro417=
XM_017004830.2:c.1113C=	XP_016860319.1:p.Ser371=
XM_024453102.1:c.885C=	XP_024308870.1:p.Ser295=
XR_001738918.2:n.1409C=
XR_001738919.2:n.1343C=
XR_002959334.1:n.1895C=
XR_002959335.1:n.1539C=
XR_241434.4:n.1373C=
XR_923004.3:n.1666C=
XR_923005.2:n.1409C=
XR_923007.3:n.1376C=
XR_923009.2:n.1272C=
XR_923010.2:n.1706C=
XR_923011.3:n.1477C=
XR_923012.2:n.1411C=
XR_923014.3:n.1013-4566C=
NM_152783.5:c.1035C= MANE Select	NP_689996.4:p.Ser345=
NM_001287249.2:c.633C=	NP_001274178.1:p.Ser211=
NM_001352824.2:c.474C=	NP_001339753.1:p.Ser158=
NR_109778.2:n.1012-4566C=