Canonical Allele Identifier: CA510385953
Gene: SAMHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.35563464T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.36935061T>A , CM000682.2:g.36935061T>A GRCh38
NC_000020.10:g.35563464T>A , CM000682.1:g.35563464T>A GRCh37
NC_000020.9:g.34996878T>A NCBI36
NG_017059.1:g.21783A>T , LRG_281:g.21783A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644114.2:c.477A>T ENSP00000494354.2:p.Gly159=
ENST00000644250.2:c.477A>T ENSP00000493810.2:p.Gly159=
ENST00000644688.2:n.539A>T
ENST00000645444.2:c.477A>T ENSP00000495381.2:p.Gly159=
ENST00000682773.1:c.477A>T ENSP00000507178.1:p.Gly159=
ENST00000683720.1:c.477A>T ENSP00000508219.1:p.Gly159=
ENST00000683766.1:c.477A>T ENSP00000506877.1:p.Gly159=
ENST00000262878.5:c.477A>T ENSP00000262878.5:p.Gly159=
ENST00000642186.1:c.477A>T ENSP00000494436.1:p.Gly159=
ENST00000642246.1:c.*156A>T ENSP00000494979.1:n.*156A>T
ENST00000642616.1:c.457+20A>T ENSP00000494271.1:n.457+20A>T
ENST00000643003.1:n.143A>T
ENST00000643078.1:c.*156A>T ENSP00000496474.1:n.*156A>T
ENST00000643918.1:c.477A>T ENSP00000493928.1:p.Gly159=
ENST00000644114.1:c.403A>T
ENST00000644370.1:n.418A>T
ENST00000645033.1:c.477A>T ENSP00000494520.1:p.Gly159=
ENST00000645444.1:c.245A>T
ENST00000646066.1:c.477A>T ENSP00000495432.1:p.Gly159=
ENST00000646121.1:c.227-4186A>T
ENST00000646673.2:c.477A>T MANE Select ENSP00000493536.2:p.Gly159=
ENST00000646866.1:c.349-4186A>T ENSP00000495737.1:n.349-4186A>T
ENST00000646869.1:c.477A>T ENSP00000495667.1:p.Gly159=
ENST00000646904.1:c.477A>T ENSP00000494823.1:p.Gly159=
ENST00000647095.1:n.548A>T
ENST00000647163.1:c.477A>T ENSP00000494313.1:p.Gly159=
ENST00000647459.1:n.504A>T
ENST00000262878.4:c.477A>T ENSP00000262878.4:p.Gly159=
NM_015474.3:c.477A>T , LRG_281t1:c.477A>T NP_056289.2:p.Gly159=
XM_005260384.2:c.477A>T XP_005260441.1:p.Gly159=
XM_011528761.1:c.477A>T XP_011527063.1:p.Gly159=
NM_001363729.1:c.477A>T NP_001350658.1:p.Gly159=
NM_001363733.1:c.477A>T NP_001350662.1:p.Gly159=
NM_001363729.2:c.477A>T NP_001350658.1:p.Gly159=
NM_001363733.2:c.477A>T NP_001350662.1:p.Gly159=
NM_015474.4:c.477A>T MANE Select NP_056289.2:p.Gly159=