Canonical Allele Identifier: CA339144815

Gene: DHDDS

Linked Data

• ClinVar Variation Id: 488193
• ClinVar RCV Id: RCV000578123 ; RCV001853833 ; RCV001172209
• dbSNP Id: rs1553122926
• MyVariant Identifiers: chr1:g.26784371G>A (hg19) ; chr1:g.26457880G>A (hg38)
• PubMed: PMID:27479843 ; PMID:29100083

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26457880G>A , CM000663.2:g.26457880G>A	GRCh38
NC_000001.10:g.26784371G>A , CM000663.1:g.26784371G>A	GRCh37
NC_000001.9:g.26656958G>A	NCBI36
NG_029786.1:g.30599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528557.6:c.632G>A	ENSP00000515248.1:p.Arg211Gln
ENST00000703198.1:c.632G>A	ENSP00000515227.1:p.Arg211Gln
ENST00000703199.1:c.413G>A	ENSP00000515228.1:p.Arg138Gln
ENST00000703200.1:c.*390G>A	ENSP00000515229.1:n.*390G>A
ENST00000703201.1:c.*1578G>A	ENSP00000515230.1:n.*1578G>A
ENST00000703202.1:c.488G>A	ENSP00000515231.1:p.Arg163Gln
ENST00000703203.1:c.*1578G>A	ENSP00000515232.1:n.*1578G>A
ENST00000703262.1:c.632G>A	ENSP00000515247.1:p.Arg211Gln
ENST00000703263.1:c.*163G>A	ENSP00000515249.1:n.*163G>A
ENST00000703264.1:n.960G>A
ENST00000236342.12:c.632G>A MANE Select	ENSP00000236342.7:p.Arg211Gln
ENST00000236342.11:c.632G>A	ENSP00000236342.7:p.Arg211Gln
ENST00000360009.6:c.632G>A	ENSP00000353104.2:p.Arg211Gln
ENST00000416052.1:c.261G>A
ENST00000430232.5:c.515G>A	ENSP00000397584.1:p.Arg172Gln
ENST00000431933.5:c.245G>A	ENSP00000399781.1:p.Arg82Gln
ENST00000434391.6:c.*433G>A	ENSP00000403529.2:n.*433G>A
ENST00000525682.6:c.530G>A	ENSP00000434984.1:p.Arg177Gln
ENST00000526219.5:c.515G>A	ENSP00000434219.1:p.Arg172Gln
NM_001243564.1:c.530G>A	NP_001230493.1:p.Arg177Gln
NM_001243565.1:c.515G>A	NP_001230494.1:p.Arg172Gln
NM_024887.3:c.632G>A	NP_079163.2:p.Arg211Gln
NM_205861.2:c.632G>A	NP_995583.1:p.Arg211Gln
XM_006710912.1:c.632G>A	XP_006710975.1:p.Arg211Gln
XM_006710913.1:c.632G>A	XP_006710976.1:p.Arg211Gln
XM_006710914.1:c.632G>A	XP_006710977.1:p.Arg211Gln
XM_006710915.1:c.530G>A	XP_006710978.1:p.Arg177Gln
XM_006710916.1:c.353G>A	XP_006710979.1:p.Arg118Gln
XM_006710917.1:c.353G>A	XP_006710980.1:p.Arg118Gln
XM_006710918.1:c.353G>A	XP_006710981.1:p.Arg118Gln
XM_006710919.1:c.353G>A	XP_006710982.1:p.Arg118Gln
XM_011542183.1:c.632G>A	XP_011540485.1:p.Arg211Gln
XM_011542184.1:c.632G>A	XP_011540486.1:p.Arg211Gln
XM_011542185.1:c.530G>A	XP_011540487.1:p.Arg177Gln
XM_011542186.1:c.530G>A	XP_011540488.1:p.Arg177Gln
NM_001319959.1:c.353G>A	NP_001306888.1:p.Arg118Gln
NM_205861.3:c.632G>A MANE Select	NP_995583.1:p.Arg211Gln
NM_001243564.2:c.530G>A	NP_001230493.1:p.Arg177Gln
NM_001243565.2:c.515G>A	NP_001230494.1:p.Arg172Gln
NM_001319959.2:c.353G>A	NP_001306888.1:p.Arg118Gln
NM_024887.4:c.632G>A	NP_079163.2:p.Arg211Gln