Canonical Allele Identifier: CA68571869

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241768374C>T , CM000664.2:g.241768374C>T	GRCh38
NC_000002.11:g.242707789C>T , CM000664.1:g.242707789C>T	GRCh37
NC_000002.10:g.242356462C>T	NCBI36
NG_012012.1:g.38760C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152783.5:c.*405C>T MANE Select	NP_689996.4:n.*405C>T
ENST00000321264.9:c.*405C>T MANE Select	ENSP00000315351.4:n.*405C>T
NM_001287249.1:c.*405C>T	NP_001274178.1:n.*405C>T
NM_001287249.2:c.*405C>T	NP_001274178.1:n.*405C>T
NM_001352824.1:c.*405C>T	NP_001339753.1:n.*405C>T
NM_001352824.2:c.*405C>T	NP_001339753.1:n.*405C>T
NM_152783.4:c.*405C>T	NP_689996.4:n.*405C>T
NR_109778.1:n.1893C>T
NR_109778.2:n.1842C>T
ENST00000321264.8:c.*405C>T	ENSP00000315351.4:n.*405C>T
ENST00000400769.6:c.*721C>T	ENSP00000383580.2:n.*721C>T
ENST00000403782.5:c.*405C>T	ENSP00000384723.1:n.*405C>T
ENST00000436747.5:c.*3207C>T	ENSP00000400212.1:n.*3207C>T
ENST00000468064.5:n.1861C>T
ENST00000473126.1:n.1170C>T
ENST00000486953.5:n.1795C>T
ENST00000610344.1:c.*815C>T	ENSP00000481906.1:n.*815C>T
XM_011511734.1:c.*405C>T	XP_011510036.1:n.*405C>T
XM_011511734.2:c.*405C>T	XP_011510036.1:n.*405C>T
XM_011511735.1:c.*405C>T	XP_011510037.1:n.*405C>T
XM_011511735.2:c.*405C>T	XP_011510037.1:n.*405C>T
XM_011511736.1:c.*405C>T	XP_011510038.1:n.*405C>T
XM_011511736.2:c.*405C>T	XP_011510038.1:n.*405C>T
XM_011511754.1:c.*405C>T	XP_011510056.1:n.*405C>T
XM_011511755.1:c.*405C>T	XP_011510057.1:n.*405C>T
XM_011511756.1:c.*405C>T	XP_011510058.1:n.*405C>T
XM_011511756.2:c.*405C>T	XP_011510058.1:n.*405C>T
XM_024453102.1:c.*405C>T	XP_024308870.1:n.*405C>T
XR_001738918.2:n.2345C>T
XR_001738919.2:n.2279C>T
XR_923004.3:n.2602C>T
XR_923007.3:n.2312C>T
XR_923011.3:n.2413C>T