Canonical Allele Identifier: CA2754920250

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767419A>C , CM000664.2:g.241767419A>C	GRCh38
NC_000002.11:g.242706834A>C , CM000664.1:g.242706834A>C	GRCh37
NC_000002.10:g.242355507A>C	NCBI36
NG_012012.1:g.37805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-291A>C MANE Select	ENSP00000315351.4:n.1307-291A>C
ENST00000321264.8:c.1307-291A>C	ENSP00000315351.4:n.1307-291A>C
ENST00000400769.6:c.*57-291A>C	ENSP00000383580.2:n.*57-291A>C
ENST00000403782.5:c.905-291A>C	ENSP00000384723.1:n.905-291A>C
ENST00000436747.5:c.*2543-291A>C	ENSP00000400212.1:n.*2543-291A>C
ENST00000445308.1:c.703-291A>C
ENST00000468064.5:n.1197-291A>C
ENST00000470343.5:n.788-291A>C
ENST00000473126.1:n.506-291A>C
ENST00000486953.5:n.1134-294A>C
ENST00000610344.1:c.*151-291A>C	ENSP00000481906.1:n.*151-291A>C
NM_001287249.1:c.905-291A>C	NP_001274178.1:n.905-291A>C
NM_152783.4:c.1307-291A>C	NP_689996.4:n.1307-291A>C
NR_109778.1:n.1229-291A>C
XM_011511734.1:c.1427-291A>C	XP_011510036.1:n.1427-291A>C
XM_011511735.1:c.1385-291A>C	XP_011510037.1:n.1385-291A>C
XM_011511736.1:c.1349-291A>C	XP_011510038.1:n.1349-291A>C
XM_011511744.1:c.*39-291A>C	XP_011510046.1:n.*39-291A>C
XM_011511750.1:c.1219-291A>C	XP_011510052.1:n.1219-291A>C
XM_011511754.1:c.866-291A>C	XP_011510056.1:n.866-291A>C
XM_011511755.1:c.857-291A>C	XP_011510057.1:n.857-291A>C
XM_011511756.1:c.854-291A>C	XP_011510058.1:n.854-291A>C
XR_923004.1:n.1939-291A>C
XR_923007.1:n.1649-291A>C
XR_923011.1:n.1750-291A>C
NM_001352824.1:c.746-291A>C	NP_001339753.1:n.746-291A>C
XM_011511734.2:c.1427-291A>C	XP_011510036.1:n.1427-291A>C
XM_011511735.2:c.1385-291A>C	XP_011510037.1:n.1385-291A>C
XM_011511736.2:c.1349-291A>C	XP_011510038.1:n.1349-291A>C
XM_011511744.2:c.*39-291A>C	XP_011510046.1:n.*39-291A>C
XM_011511750.3:c.1219-291A>C	XP_011510052.1:n.1219-291A>C
XM_011511756.2:c.854-291A>C	XP_011510058.1:n.854-291A>C
XM_024453102.1:c.1199-291A>C	XP_024308870.1:n.1199-291A>C
XR_001738918.2:n.1681-291A>C
XR_001738919.2:n.1615-291A>C
XR_923004.3:n.1938-291A>C
XR_923007.3:n.1648-291A>C
XR_923011.3:n.1749-291A>C
NM_152783.5:c.1307-291A>C MANE Select	NP_689996.4:n.1307-291A>C
NM_001287249.2:c.905-291A>C	NP_001274178.1:n.905-291A>C
NM_001352824.2:c.746-291A>C	NP_001339753.1:n.746-291A>C
NR_109778.2:n.1178-291A>C