Canonical Allele Identifier: CA19777123

Gene: DHDDS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26468984G>T , CM000663.2:g.26468984G>T	GRCh38
NC_000001.10:g.26795475G>T , CM000663.1:g.26795475G>T	GRCh37
NC_000001.9:g.26668062G>T	NCBI36
NG_029786.1:g.41703G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_205861.3:c.855G>T MANE Select	NP_995583.1:p.Gly285=
ENST00000236342.12:c.855G>T MANE Select	ENSP00000236342.7:p.Gly285=
NM_001243564.1:c.753G>T	NP_001230493.1:p.Gly251=
NM_001243564.2:c.753G>T	NP_001230493.1:p.Gly251=
NM_001243565.1:c.738G>T	NP_001230494.1:p.Gly246=
NM_001243565.2:c.738G>T	NP_001230494.1:p.Gly246=
NM_001319959.1:c.576G>T	NP_001306888.1:p.Gly192=
NM_001319959.2:c.576G>T	NP_001306888.1:p.Gly192=
NM_024887.3:c.858G>T	NP_079163.2:p.Gly286=
NM_024887.4:c.858G>T	NP_079163.2:p.Gly286=
NM_205861.2:c.855G>T	NP_995583.1:p.Gly285=
ENST00000236342.11:c.855G>T	ENSP00000236342.7:p.Gly285=
ENST00000360009.6:c.858G>T	ENSP00000353104.2:p.Gly286=
ENST00000431933.5:c.363G>T	ENSP00000399781.1:p.Gly121=
ENST00000434391.6:c.*656G>T	ENSP00000403529.2:n.*656G>T
ENST00000525682.6:c.753G>T	ENSP00000434984.1:p.Gly251=
ENST00000526219.5:c.738G>T	ENSP00000434219.1:p.Gly246=
ENST00000528557.6:c.855G>T	ENSP00000515248.1:p.Gly285=
ENST00000703198.1:c.747G>T	ENSP00000515227.1:p.Gly249=
ENST00000703199.1:c.636G>T	ENSP00000515228.1:p.Gly212=
ENST00000703200.1:c.*613G>T	ENSP00000515229.1:n.*613G>T
ENST00000703201.1:c.*1804G>T	ENSP00000515230.1:n.*1804G>T
ENST00000703202.1:c.711G>T	ENSP00000515231.1:p.Gly237=
ENST00000703203.1:c.*1801G>T	ENSP00000515232.1:n.*1801G>T
ENST00000703262.1:c.952G>T	ENSP00000515247.1:p.Ala318Ser
ENST00000703263.1:c.*386G>T	ENSP00000515249.1:n.*386G>T
XM_006710912.1:c.858G>T	XP_006710975.1:p.Gly286=
XM_006710913.1:c.858G>T	XP_006710976.1:p.Gly286=
XM_006710914.1:c.858G>T	XP_006710977.1:p.Gly286=
XM_006710915.1:c.756G>T	XP_006710978.1:p.Gly252=
XM_006710916.1:c.579G>T	XP_006710979.1:p.Gly193=
XM_006710917.1:c.579G>T	XP_006710980.1:p.Gly193=
XM_006710918.1:c.579G>T	XP_006710981.1:p.Gly193=
XM_006710919.1:c.576G>T	XP_006710982.1:p.Gly192=
XM_011542183.1:c.858G>T	XP_011540485.1:p.Gly286=
XM_011542184.1:c.855G>T	XP_011540486.1:p.Gly285=
XM_011542185.1:c.756G>T	XP_011540487.1:p.Gly252=
XM_011542186.1:c.753G>T	XP_011540488.1:p.Gly251=