Canonical Allele Identifier: CA510392764
Community Standard Title: NM_015474.4(SAMHD1):c.756T>C (p.Pro252=)
Gene: SAMHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.36919460A>G , CM000682.2:g.36919460A>G GRCh38
NC_000020.10:g.35547863A>G , CM000682.1:g.35547863A>G GRCh37
NC_000020.9:g.34981277A>G NCBI36
NG_017059.1:g.37384T>C , LRG_281:g.37384T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015474.4:c.756T>C MANE Select NP_056289.2:p.Pro252=
ENST00000646673.2:c.756T>C MANE Select ENSP00000493536.2:p.Pro252=
NM_001363729.1:c.756T>C NP_001350658.1:p.Pro252=
NM_001363729.2:c.756T>C NP_001350658.1:p.Pro252=
NM_001363733.1:c.756T>C NP_001350662.1:p.Pro252=
NM_001363733.2:c.756T>C NP_001350662.1:p.Pro252=
NM_015474.3:c.756T>C , LRG_281t1:c.756T>C NP_056289.2:p.Pro252=
ENST00000262878.4:c.756T>C ENSP00000262878.4:p.Pro252=
ENST00000262878.5:c.756T>C ENSP00000262878.5:p.Pro252=
ENST00000642186.1:c.756T>C ENSP00000494436.1:p.Pro252=
ENST00000642246.1:c.*435T>C ENSP00000494979.1:n.*435T>C
ENST00000642616.1:c.*233T>C ENSP00000494271.1:n.*233T>C
ENST00000643078.1:c.*435T>C ENSP00000496474.1:n.*435T>C
ENST00000643161.1:n.319T>C
ENST00000643918.1:c.756T>C ENSP00000493928.1:p.Pro252=
ENST00000644114.1:c.682T>C
ENST00000644114.2:c.756T>C ENSP00000494354.2:p.Pro252=
ENST00000644250.2:c.756T>C ENSP00000493810.2:p.Pro252=
ENST00000644688.1:n.69T>C
ENST00000644688.2:n.818T>C
ENST00000645033.1:c.756T>C ENSP00000494520.1:p.Pro252=
ENST00000645444.1:c.524T>C
ENST00000645444.2:c.756T>C ENSP00000495381.2:p.Pro252=
ENST00000646066.1:c.756T>C ENSP00000495432.1:p.Pro252=
ENST00000646866.1:c.*205T>C ENSP00000495737.1:n.*205T>C
ENST00000646869.1:c.756T>C ENSP00000495667.1:p.Pro252=
ENST00000646904.1:c.756T>C ENSP00000494823.1:p.Pro252=
ENST00000647095.1:n.827T>C
ENST00000647163.1:c.756T>C ENSP00000494313.1:p.Pro252=
ENST00000647459.1:n.783T>C
ENST00000682773.1:c.756T>C ENSP00000507178.1:p.Pro252=
ENST00000683720.1:c.794T>C ENSP00000508219.1:n.794T>C
ENST00000683766.1:c.756T>C ENSP00000506877.1:p.Pro252=
XM_005260384.2:c.756T>C XP_005260441.1:p.Pro252=
XM_011528761.1:c.756T>C XP_011527063.1:p.Pro252=