Canonical Allele Identifier: CA510388476

Gene: SAMHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36897834G>A , CM000682.2:g.36897834G>A	GRCh38
NC_000020.10:g.35526237G>A , CM000682.1:g.35526237G>A	GRCh37
NC_000020.9:g.34959651G>A	NCBI36
NG_017059.1:g.59010C>T , LRG_281:g.59010C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015474.4:c.1734C>T MANE Select	NP_056289.2:p.Phe578=
ENST00000646673.2:c.1734C>T MANE Select	ENSP00000493536.2:p.Phe578=
NM_001363729.1:c.1629C>T	NP_001350658.1:p.Phe543=
NM_001363729.2:c.1629C>T	NP_001350658.1:p.Phe543=
NM_001363733.1:c.1734C>T	NP_001350662.1:p.Phe578=
NM_001363733.2:c.1734C>T	NP_001350662.1:p.Phe578=
NM_015474.3:c.1734C>T , LRG_281t1:c.1734C>T	NP_056289.2:p.Phe578=
ENST00000262878.4:c.1734C>T	ENSP00000262878.4:p.Phe578=
ENST00000262878.5:c.1629C>T	ENSP00000262878.5:p.Phe543=
ENST00000465985.1:n.250C>T
ENST00000465985.2:c.250C>T
ENST00000642186.1:c.*2038C>T	ENSP00000494436.1:n.*2038C>T
ENST00000642246.1:c.*1413C>T	ENSP00000494979.1:n.*1413C>T
ENST00000643825.1:c.357C>T	ENSP00000495448.1:p.Phe119=
ENST00000643918.1:c.1734C>T	ENSP00000493928.1:p.Phe578=
ENST00000644114.1:c.1427C>T
ENST00000644114.2:c.1501C>T	ENSP00000494354.2:n.1501C>T
ENST00000644250.2:c.1629C>T	ENSP00000493810.2:p.Phe543=
ENST00000645033.1:c.*911C>T	ENSP00000494520.1:n.*911C>T
ENST00000646066.1:c.1524C>T	ENSP00000495432.1:p.Phe508=
ENST00000646869.1:c.1734C>T	ENSP00000495667.1:p.Phe578=
ENST00000646904.1:c.*940C>T	ENSP00000494823.1:n.*940C>T
ENST00000647095.1:n.2932C>T
ENST00000647163.1:c.*911C>T	ENSP00000494313.1:n.*911C>T
ENST00000647459.1:n.2783C>T
ENST00000682773.1:c.1734C>T	ENSP00000507178.1:p.Phe578=
ENST00000683720.1:c.1772C>T	ENSP00000508219.1:n.1772C>T
ENST00000683766.1:c.1734C>T	ENSP00000506877.1:p.Phe578=
XM_005260384.2:c.1629C>T	XP_005260441.1:p.Phe543=
XM_011528761.1:c.1734C>T	XP_011527063.1:p.Phe578=