Canonical Allele Identifier: CA1339776271

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751335G= , CM000664.2:g.241751335G=	GRCh38
NC_000002.11:g.242690750G= , CM000664.1:g.242690750G=	GRCh37
NC_000002.10:g.242339423G=	NCBI36
NG_012012.1:g.21721G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1087G= MANE Select	ENSP00000315351.4:p.Gly363=
ENST00000321264.8:c.1087G=	ENSP00000315351.4:p.Gly363=
ENST00000400769.6:c.854-4514G=	ENSP00000383580.2:n.854-4514G=
ENST00000403782.5:c.685G=	ENSP00000384723.1:p.Gly229=
ENST00000432449.1:c.347G=
ENST00000436747.5:c.*1403G=	ENSP00000400212.1:n.*1403G=
ENST00000454048.1:c.190G=	ENSP00000404596.1:p.Gly64=
ENST00000467427.5:n.389+1041G=
ENST00000470343.5:n.568G=
ENST00000473126.1:n.286G=
ENST00000486953.5:n.163+1041G=
ENST00000496252.5:n.442G=
NM_001287249.1:c.685G=	NP_001274178.1:p.Gly229=
NM_152783.4:c.1087G=	NP_689996.4:p.Gly363=
NR_109778.1:n.1063-4514G=
XM_011511734.1:c.1165G=	XP_011510036.1:p.Gly389=
XM_011511735.1:c.1165G=	XP_011510037.1:p.Gly389=
XM_011511736.1:c.1087G=	XP_011510038.1:p.Gly363=
XM_011511737.1:c.1165G=	XP_011510039.1:p.Gly389=
XM_011511742.1:c.1302G=	XP_011510044.1:p.Trp434=
XM_011511743.1:c.1302G=	XP_011510045.1:p.Trp434=
XM_011511744.1:c.1302G=	XP_011510046.1:p.Trp434=
XM_011511745.1:c.1165G=	XP_011510047.1:p.Gly389=
XM_011511748.1:c.1236G=	XP_011510050.1:p.Trp412=
XM_011511749.1:c.1179+1041G=	XP_011510051.1:n.1179+1041G=
XM_011511750.1:c.1165G=	XP_011510052.1:p.Gly389=
XM_011511751.1:c.1212+756G=	XP_011510053.1:n.1212+756G=
XM_011511753.1:c.1075+1041G=	XP_011510055.1:n.1075+1041G=
XM_011511754.1:c.604G=	XP_011510056.1:p.Gly202=
XM_011511755.1:c.595G=	XP_011510057.1:p.Gly199=
XM_011511756.1:c.853+6458G=	XP_011510058.1:n.853+6458G=
XR_241434.3:n.1426G=
XR_923003.1:n.1948G=
XR_923004.1:n.1719G=
XR_923005.1:n.1462G=
XR_923006.1:n.1462G=
XR_923007.1:n.1429G=
XR_923008.1:n.1325G=
XR_923009.1:n.1325G=
XR_923010.1:n.1759G=
XR_923011.1:n.1530G=
XR_923012.1:n.1464G=
XR_923014.1:n.1014-4514G=
NM_001352824.1:c.526G=	NP_001339753.1:p.Gly176=
XM_011511734.2:c.1165G=	XP_011510036.1:p.Gly389=
XM_011511735.2:c.1165G=	XP_011510037.1:p.Gly389=
XM_011511736.2:c.1087G=	XP_011510038.1:p.Gly363=
XM_011511737.3:c.1165G=	XP_011510039.1:p.Gly389=
XM_011511743.2:c.1302G=	XP_011510045.1:p.Trp434=
XM_011511744.2:c.1302G=	XP_011510046.1:p.Trp434=
XM_011511745.3:c.1165G=	XP_011510047.1:p.Gly389=
XM_011511749.3:c.1179+1041G=	XP_011510051.1:n.1179+1041G=
XM_011511750.3:c.1165G=	XP_011510052.1:p.Gly389=
XM_011511751.2:c.1212+756G=	XP_011510053.1:n.1212+756G=
XM_011511753.3:c.1075+1041G=	XP_011510055.1:n.1075+1041G=
XM_011511756.2:c.853+6458G=	XP_011510058.1:n.853+6458G=
XM_017004828.2:c.1087G=	XP_016860317.1:p.Gly363=
XM_017004829.2:c.1302G=	XP_016860318.1:p.Trp434=
XM_017004830.2:c.1165G=	XP_016860319.1:p.Gly389=
XM_024453102.1:c.937G=	XP_024308870.1:p.Gly313=
XR_001738918.2:n.1461G=
XR_001738919.2:n.1395G=
XR_002959334.1:n.1947G=
XR_002959335.1:n.1591G=
XR_241434.4:n.1425G=
XR_923004.3:n.1718G=
XR_923005.2:n.1461G=
XR_923007.3:n.1428G=
XR_923009.2:n.1324G=
XR_923010.2:n.1758G=
XR_923011.3:n.1529G=
XR_923012.2:n.1463G=
XR_923014.3:n.1013-4514G=
NM_152783.5:c.1087G= MANE Select	NP_689996.4:p.Gly363=
NM_001287249.2:c.685G=	NP_001274178.1:p.Gly229=
NM_001352824.2:c.526G=	NP_001339753.1:p.Gly176=
NR_109778.2:n.1012-4514G=