Canonical Allele Identifier: CA705486

Gene: DHDDS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26469037C>T , CM000663.2:g.26469037C>T	GRCh38
NC_000001.10:g.26795528C>T , CM000663.1:g.26795528C>T	GRCh37
NC_000001.9:g.26668115C>T	NCBI36
NG_029786.1:g.41756C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_205861.3:c.908C>T MANE Select	NP_995583.1:p.Ser303Leu
ENST00000236342.12:c.908C>T MANE Select	ENSP00000236342.7:p.Ser303Leu
NM_001243564.1:c.806C>T	NP_001230493.1:p.Ser269Leu
NM_001243564.2:c.806C>T	NP_001230493.1:p.Ser269Leu
NM_001243565.1:c.791C>T	NP_001230494.1:p.Ser264Leu
NM_001243565.2:c.791C>T	NP_001230494.1:p.Ser264Leu
NM_001319959.1:c.629C>T	NP_001306888.1:p.Ser210Leu
NM_001319959.2:c.629C>T	NP_001306888.1:p.Ser210Leu
NM_024887.3:c.911C>T	NP_079163.2:p.Ser304Leu
NM_024887.4:c.911C>T	NP_079163.2:p.Ser304Leu
NM_205861.2:c.908C>T	NP_995583.1:p.Ser303Leu
ENST00000236342.11:c.908C>T	ENSP00000236342.7:p.Ser303Leu
ENST00000360009.6:c.911C>T	ENSP00000353104.2:p.Ser304Leu
ENST00000431933.5:c.416C>T	ENSP00000399781.1:p.Ser139Leu
ENST00000434391.6:c.*709C>T	ENSP00000403529.2:n.*709C>T
ENST00000525682.6:c.806C>T	ENSP00000434984.1:p.Ser269Leu
ENST00000526219.5:c.791C>T	ENSP00000434219.1:p.Ser264Leu
ENST00000528557.6:c.908C>T	ENSP00000515248.1:p.Ser303Leu
ENST00000703198.1:c.800C>T	ENSP00000515227.1:p.Ser267Leu
ENST00000703199.1:c.689C>T	ENSP00000515228.1:p.Ser230Leu
ENST00000703200.1:c.*666C>T	ENSP00000515229.1:n.*666C>T
ENST00000703201.1:c.*1857C>T	ENSP00000515230.1:n.*1857C>T
ENST00000703202.1:c.764C>T	ENSP00000515231.1:p.Ser255Leu
ENST00000703203.1:c.*1854C>T	ENSP00000515232.1:n.*1854C>T
ENST00000703262.1:c.1005C>T	ENSP00000515247.1:p.Leu335=
ENST00000703263.1:c.*439C>T	ENSP00000515249.1:n.*439C>T
XM_006710912.1:c.911C>T	XP_006710975.1:p.Ser304Leu
XM_006710913.1:c.911C>T	XP_006710976.1:p.Ser304Leu
XM_006710914.1:c.911C>T	XP_006710977.1:p.Ser304Leu
XM_006710915.1:c.809C>T	XP_006710978.1:p.Ser270Leu
XM_006710916.1:c.632C>T	XP_006710979.1:p.Ser211Leu
XM_006710917.1:c.632C>T	XP_006710980.1:p.Ser211Leu
XM_006710918.1:c.632C>T	XP_006710981.1:p.Ser211Leu
XM_006710919.1:c.629C>T	XP_006710982.1:p.Ser210Leu
XM_011542183.1:c.911C>T	XP_011540485.1:p.Ser304Leu
XM_011542184.1:c.908C>T	XP_011540486.1:p.Ser303Leu
XM_011542185.1:c.809C>T	XP_011540487.1:p.Ser270Leu
XM_011542186.1:c.806C>T	XP_011540488.1:p.Ser269Leu