Canonical Allele Identifier: CA9844437
Gene: SAMHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2867854
ClinVar RCV Id: RCV003610532
dbSNP Id: rs754164797

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.36897867T>C , CM000682.2:g.36897867T>C GRCh38
NC_000020.10:g.35526270T>C , CM000682.1:g.35526270T>C GRCh37
NC_000020.9:g.34959684T>C NCBI36
NG_017059.1:g.58977A>G , LRG_281:g.58977A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644114.2:c.1468A>G ENSP00000494354.2:n.1468A>G
ENST00000644250.2:c.1596A>G ENSP00000493810.2:p.Gln532=
ENST00000682773.1:c.1701A>G ENSP00000507178.1:p.Gln567=
ENST00000683720.1:c.1739A>G ENSP00000508219.1:n.1739A>G
ENST00000683766.1:c.1701A>G ENSP00000506877.1:p.Gln567=
ENST00000262878.5:c.1596A>G ENSP00000262878.5:p.Gln532=
ENST00000465985.2:c.217A>G
ENST00000642186.1:c.*2005A>G ENSP00000494436.1:n.*2005A>G
ENST00000642246.1:c.*1380A>G ENSP00000494979.1:n.*1380A>G
ENST00000643825.1:c.324A>G ENSP00000495448.1:p.Gln108=
ENST00000643918.1:c.1701A>G ENSP00000493928.1:p.Gln567=
ENST00000644114.1:c.1394A>G
ENST00000645033.1:c.*878A>G ENSP00000494520.1:n.*878A>G
ENST00000646066.1:c.1491A>G ENSP00000495432.1:p.Gln497=
ENST00000646673.2:c.1701A>G MANE Select ENSP00000493536.2:p.Gln567=
ENST00000646869.1:c.1701A>G ENSP00000495667.1:p.Gln567=
ENST00000646904.1:c.*907A>G ENSP00000494823.1:n.*907A>G
ENST00000647095.1:n.2899A>G
ENST00000647163.1:c.*878A>G ENSP00000494313.1:n.*878A>G
ENST00000647459.1:n.2750A>G
ENST00000262878.4:c.1701A>G ENSP00000262878.4:p.Gln567=
ENST00000465985.1:n.217A>G
NM_015474.3:c.1701A>G , LRG_281t1:c.1701A>G NP_056289.2:p.Gln567=
XM_005260384.2:c.1596A>G XP_005260441.1:p.Gln532=
XM_011528761.1:c.1701A>G XP_011527063.1:p.Gln567=
NM_001363729.1:c.1596A>G NP_001350658.1:p.Gln532=
NM_001363733.1:c.1701A>G NP_001350662.1:p.Gln567=
NM_001363729.2:c.1596A>G NP_001350658.1:p.Gln532=
NM_001363733.2:c.1701A>G NP_001350662.1:p.Gln567=
NM_015474.4:c.1701A>G MANE Select NP_056289.2:p.Gln567=