Canonical Allele Identifier: CA416967292

Gene: DHDDS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26468930G>A , CM000663.2:g.26468930G>A	GRCh38
NC_000001.10:g.26795421G>A , CM000663.1:g.26795421G>A	GRCh37
NC_000001.9:g.26668008G>A	NCBI36
NG_029786.1:g.41649G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_205861.3:c.801G>A MANE Select	NP_995583.1:p.Arg267=
ENST00000236342.12:c.801G>A MANE Select	ENSP00000236342.7:p.Arg267=
NM_001243564.1:c.699G>A	NP_001230493.1:p.Arg233=
NM_001243564.2:c.699G>A	NP_001230493.1:p.Arg233=
NM_001243565.1:c.684G>A	NP_001230494.1:p.Arg228=
NM_001243565.2:c.684G>A	NP_001230494.1:p.Arg228=
NM_001319959.1:c.522G>A	NP_001306888.1:p.Arg174=
NM_001319959.2:c.522G>A	NP_001306888.1:p.Arg174=
NM_024887.3:c.804G>A	NP_079163.2:p.Arg268=
NM_024887.4:c.804G>A	NP_079163.2:p.Arg268=
NM_205861.2:c.801G>A	NP_995583.1:p.Arg267=
ENST00000236342.11:c.801G>A	ENSP00000236342.7:p.Arg267=
ENST00000360009.6:c.804G>A	ENSP00000353104.2:p.Arg268=
ENST00000431933.5:c.309G>A	ENSP00000399781.1:p.Arg103=
ENST00000434391.6:c.*602G>A	ENSP00000403529.2:n.*602G>A
ENST00000525682.6:c.699G>A	ENSP00000434984.1:p.Arg233=
ENST00000526219.5:c.684G>A	ENSP00000434219.1:p.Arg228=
ENST00000528557.6:c.801G>A	ENSP00000515248.1:p.Arg267=
ENST00000703198.1:c.693G>A	ENSP00000515227.1:p.Arg231=
ENST00000703199.1:c.582G>A	ENSP00000515228.1:p.Arg194=
ENST00000703200.1:c.*559G>A	ENSP00000515229.1:n.*559G>A
ENST00000703201.1:c.*1750G>A	ENSP00000515230.1:n.*1750G>A
ENST00000703202.1:c.657G>A	ENSP00000515231.1:p.Arg219=
ENST00000703203.1:c.*1747G>A	ENSP00000515232.1:n.*1747G>A
ENST00000703262.1:c.898G>A	ENSP00000515247.1:p.Ala300Thr
ENST00000703263.1:c.*332G>A	ENSP00000515249.1:n.*332G>A
XM_006710912.1:c.804G>A	XP_006710975.1:p.Arg268=
XM_006710913.1:c.804G>A	XP_006710976.1:p.Arg268=
XM_006710914.1:c.804G>A	XP_006710977.1:p.Arg268=
XM_006710915.1:c.702G>A	XP_006710978.1:p.Arg234=
XM_006710916.1:c.525G>A	XP_006710979.1:p.Arg175=
XM_006710917.1:c.525G>A	XP_006710980.1:p.Arg175=
XM_006710918.1:c.525G>A	XP_006710981.1:p.Arg175=
XM_006710919.1:c.522G>A	XP_006710982.1:p.Arg174=
XM_011542183.1:c.804G>A	XP_011540485.1:p.Arg268=
XM_011542184.1:c.801G>A	XP_011540486.1:p.Arg267=
XM_011542185.1:c.702G>A	XP_011540487.1:p.Arg234=
XM_011542186.1:c.699G>A	XP_011540488.1:p.Arg233=