Canonical Allele Identifier: CA2697547383

Gene: SAMHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36897805A>G , CM000682.2:g.36897805A>G	GRCh38
NC_000020.10:g.35526208A>G , CM000682.1:g.35526208A>G	GRCh37
NC_000020.9:g.34959622A>G	NCBI36
NG_017059.1:g.59039T>C , LRG_281:g.59039T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015474.4:c.1746+17T>C MANE Select	NP_056289.2:n.1746+17T>C
ENST00000646673.2:c.1746+17T>C MANE Select	ENSP00000493536.2:n.1746+17T>C
NM_001363729.1:c.1641+17T>C	NP_001350658.1:n.1641+17T>C
NM_001363729.2:c.1641+17T>C	NP_001350658.1:n.1641+17T>C
NM_001363733.1:c.1746+17T>C	NP_001350662.1:n.1746+17T>C
NM_001363733.2:c.1746+17T>C	NP_001350662.1:n.1746+17T>C
NM_015474.3:c.1746+17T>C , LRG_281t1:c.1746+17T>C	NP_056289.2:n.1746+17T>C
ENST00000262878.4:c.1746+17T>C	ENSP00000262878.4:n.1746+17T>C
ENST00000262878.5:c.1641+17T>C	ENSP00000262878.5:n.1641+17T>C
ENST00000465985.1:n.279T>C
ENST00000465985.2:c.279T>C
ENST00000642186.1:c.*2050+17T>C	ENSP00000494436.1:n.*2050+17T>C
ENST00000642246.1:c.*1425+17T>C	ENSP00000494979.1:n.*1425+17T>C
ENST00000643825.1:c.386T>C	ENSP00000495448.1:p.Leu129Pro
ENST00000643918.1:c.1746+17T>C	ENSP00000493928.1:n.1746+17T>C
ENST00000644114.1:c.1439+17T>C
ENST00000644114.2:c.1513+17T>C	ENSP00000494354.2:n.1513+17T>C
ENST00000644250.2:c.1641+17T>C	ENSP00000493810.2:n.1641+17T>C
ENST00000645033.1:c.*923+17T>C	ENSP00000494520.1:n.*923+17T>C
ENST00000646066.1:c.1536+17T>C	ENSP00000495432.1:n.1536+17T>C
ENST00000646869.1:c.1746+17T>C	ENSP00000495667.1:n.1746+17T>C
ENST00000646904.1:c.*952+17T>C	ENSP00000494823.1:n.*952+17T>C
ENST00000647095.1:n.2944+17T>C
ENST00000647163.1:c.*923+17T>C	ENSP00000494313.1:n.*923+17T>C
ENST00000647459.1:n.2795+17T>C
ENST00000682773.1:c.1746+17T>C	ENSP00000507178.1:n.1746+17T>C
ENST00000683720.1:c.1784+17T>C	ENSP00000508219.1:n.1784+17T>C
ENST00000683766.1:c.1746+17T>C	ENSP00000506877.1:n.1746+17T>C
XM_005260384.2:c.1641+17T>C	XP_005260441.1:n.1641+17T>C
XM_011528761.1:c.1746+17T>C	XP_011527063.1:n.1746+17T>C