Canonical Allele Identifier: CA339138678

Gene: DHDDS

Linked Data

• ClinVar Variation Id: 451635
• ClinVar RCV Id: RCV000519248 ; RCV000578122 ; RCV001858011
• dbSNP Id: rs1553121073
• MyVariant Identifiers: chr1:g.26764705G>A (hg19) ; chr1:g.26438214G>A (hg38)
• PubMed: PMID:29100083

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26438214G>A , CM000663.2:g.26438214G>A	GRCh38
NC_000001.10:g.26764705G>A , CM000663.1:g.26764705G>A	GRCh37
NC_000001.9:g.26637292G>A	NCBI36
NG_029786.1:g.10933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528557.6:c.110G>A	ENSP00000515248.1:p.Arg37His
ENST00000703198.1:c.110G>A	ENSP00000515227.1:p.Arg37His
ENST00000703199.1:c.110G>A	ENSP00000515228.1:p.Arg37His
ENST00000703200.1:c.110G>A	ENSP00000515229.1:p.Arg37His
ENST00000703201.1:c.110G>A	ENSP00000515230.1:p.Arg37His
ENST00000703202.1:c.110G>A	ENSP00000515231.1:p.Arg37His
ENST00000703203.1:c.110G>A	ENSP00000515232.1:p.Arg37His
ENST00000703262.1:c.110G>A	ENSP00000515247.1:p.Arg37His
ENST00000703263.1:c.110G>A	ENSP00000515249.1:p.Arg37His
ENST00000236342.12:c.110G>A MANE Select	ENSP00000236342.7:p.Arg37His
ENST00000236342.11:c.110G>A	ENSP00000236342.7:p.Arg37His
ENST00000360009.6:c.110G>A	ENSP00000353104.2:p.Arg37His
ENST00000374185.7:c.110G>A	ENSP00000363300.3:p.Arg37His
ENST00000374186.7:n.213G>A
ENST00000427245.6:c.110G>A	ENSP00000399177.2:p.Arg37His
ENST00000430232.5:c.110G>A	ENSP00000397584.1:p.Arg37His
ENST00000434391.6:c.110G>A	ENSP00000403529.2:p.Arg37His
ENST00000436153.6:c.110G>A	ENSP00000405604.2:p.Arg37His
ENST00000487944.5:n.197G>A
ENST00000525165.5:c.110G>A	ENSP00000434185.1:p.Arg37His
ENST00000525326.5:c.110G>A	ENSP00000431407.1:p.Arg37His
ENST00000525410.1:n.278G>A
ENST00000525546.5:c.110G>A	ENSP00000433976.1:p.Arg37His
ENST00000525682.6:c.110G>A	ENSP00000434984.1:p.Arg37His
ENST00000526219.5:c.110G>A	ENSP00000434219.1:p.Arg37His
ENST00000526278.5:n.195G>A
ENST00000528557.5:n.287G>A
ENST00000529688.5:n.286G>A
ENST00000530781.5:c.110G>A	ENSP00000433491.1:p.Arg37His
ENST00000531312.5:c.110G>A	ENSP00000436764.1:p.Arg37His
ENST00000531955.5:n.330G>A
ENST00000533087.5:c.110G>A	ENSP00000436119.1:p.Arg37His
NM_001243564.1:c.110G>A	NP_001230493.1:p.Arg37His
NM_001243565.1:c.110G>A	NP_001230494.1:p.Arg37His
NM_024887.3:c.110G>A	NP_079163.2:p.Arg37His
NM_205861.2:c.110G>A	NP_995583.1:p.Arg37His
XM_006710912.1:c.110G>A	XP_006710975.1:p.Arg37His
XM_006710913.1:c.110G>A	XP_006710976.1:p.Arg37His
XM_006710914.1:c.110G>A	XP_006710977.1:p.Arg37His
XM_006710915.1:c.110G>A	XP_006710978.1:p.Arg37His
XM_006710916.1:c.-193G>A	XP_006710979.1:n.-193G>A
XM_006710917.1:c.-193G>A	XP_006710980.1:n.-193G>A
XM_006710918.1:c.-193G>A	XP_006710981.1:n.-193G>A
XM_006710919.1:c.-193G>A	XP_006710982.1:n.-193G>A
XM_011542183.1:c.110G>A	XP_011540485.1:p.Arg37His
XM_011542184.1:c.110G>A	XP_011540486.1:p.Arg37His
XM_011542185.1:c.110G>A	XP_011540487.1:p.Arg37His
XM_011542186.1:c.110G>A	XP_011540488.1:p.Arg37His
NM_001319959.1:c.-193G>A	NP_001306888.1:n.-193G>A
NM_205861.3:c.110G>A MANE Select	NP_995583.1:p.Arg37His
NM_001243564.2:c.110G>A	NP_001230493.1:p.Arg37His
NM_001243565.2:c.110G>A	NP_001230494.1:p.Arg37His
NM_001319959.2:c.-193G>A	NP_001306888.1:n.-193G>A
NM_024887.4:c.110G>A	NP_079163.2:p.Arg37His