Canonical Allele Identifier: CA223788

Gene: DHDDS

Linked Data

• ClinVar Variation Id: 96167
• ClinVar RCV Id: RCV000082244 ; RCV001854439
• dbSNP Id: rs376517028
• MyVariant Identifiers: chr1:g.26795529G>T (hg19) ; chr1:g.26469038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26469038G>T , CM000663.2:g.26469038G>T	GRCh38
NC_000001.10:g.26795529G>T , CM000663.1:g.26795529G>T	GRCh37
NC_000001.9:g.26668116G>T	NCBI36
NG_029786.1:g.41757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528557.6:c.909G>T	ENSP00000515248.1:p.Ser303=
ENST00000703198.1:c.801G>T	ENSP00000515227.1:p.Ser267=
ENST00000703199.1:c.690G>T	ENSP00000515228.1:p.Ser230=
ENST00000703200.1:c.*667G>T	ENSP00000515229.1:n.*667G>T
ENST00000703201.1:c.*1858G>T	ENSP00000515230.1:n.*1858G>T
ENST00000703202.1:c.765G>T	ENSP00000515231.1:p.Ser255=
ENST00000703203.1:c.*1855G>T	ENSP00000515232.1:n.*1855G>T
ENST00000703262.1:c.1006G>T	ENSP00000515247.1:p.Gly336Cys
ENST00000703263.1:c.*440G>T	ENSP00000515249.1:n.*440G>T
ENST00000236342.12:c.909G>T MANE Select	ENSP00000236342.7:p.Ser303=
ENST00000236342.11:c.909G>T	ENSP00000236342.7:p.Ser303=
ENST00000360009.6:c.912G>T	ENSP00000353104.2:p.Ser304=
ENST00000431933.5:c.417G>T	ENSP00000399781.1:p.Ser139=
ENST00000434391.6:c.*710G>T	ENSP00000403529.2:n.*710G>T
ENST00000525682.6:c.807G>T	ENSP00000434984.1:p.Ser269=
ENST00000526219.5:c.792G>T	ENSP00000434219.1:p.Ser264=
NM_001243564.1:c.807G>T	NP_001230493.1:p.Ser269=
NM_001243565.1:c.792G>T	NP_001230494.1:p.Ser264=
NM_024887.3:c.912G>T	NP_079163.2:p.Ser304=
NM_205861.2:c.909G>T	NP_995583.1:p.Ser303=
XM_006710912.1:c.912G>T	XP_006710975.1:p.Ser304=
XM_006710913.1:c.912G>T	XP_006710976.1:p.Ser304=
XM_006710914.1:c.912G>T	XP_006710977.1:p.Ser304=
XM_006710915.1:c.810G>T	XP_006710978.1:p.Ser270=
XM_006710916.1:c.633G>T	XP_006710979.1:p.Ser211=
XM_006710917.1:c.633G>T	XP_006710980.1:p.Ser211=
XM_006710918.1:c.633G>T	XP_006710981.1:p.Ser211=
XM_006710919.1:c.630G>T	XP_006710982.1:p.Ser210=
XM_011542183.1:c.912G>T	XP_011540485.1:p.Ser304=
XM_011542184.1:c.909G>T	XP_011540486.1:p.Ser303=
XM_011542185.1:c.810G>T	XP_011540487.1:p.Ser270=
XM_011542186.1:c.807G>T	XP_011540488.1:p.Ser269=
NM_001319959.1:c.630G>T	NP_001306888.1:p.Ser210=
NM_205861.3:c.909G>T MANE Select	NP_995583.1:p.Ser303=
NM_001243564.2:c.807G>T	NP_001230493.1:p.Ser269=
NM_001243565.2:c.792G>T	NP_001230494.1:p.Ser264=
NM_001319959.2:c.630G>T	NP_001306888.1:p.Ser210=
NM_024887.4:c.912G>T	NP_079163.2:p.Ser304=