Canonical Allele Identifier: CA340153
Gene: SAMHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4073
ClinVar RCV Id: RCV000004288
dbSNP Id: rs121434521

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.36919456T>C , CM000682.2:g.36919456T>C GRCh38
NC_000020.10:g.35547859T>C , CM000682.1:g.35547859T>C GRCh37
NC_000020.9:g.34981273T>C NCBI36
NG_017059.1:g.37388A>G , LRG_281:g.37388A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644114.2:c.760A>G ENSP00000494354.2:p.Met254Val
ENST00000644250.2:c.760A>G ENSP00000493810.2:p.Met254Val
ENST00000644688.2:n.822A>G
ENST00000645444.2:c.760A>G ENSP00000495381.2:p.Met254Val
ENST00000682773.1:c.760A>G ENSP00000507178.1:p.Met254Val
ENST00000683720.1:c.798A>G ENSP00000508219.1:n.798A>G
ENST00000683766.1:c.760A>G ENSP00000506877.1:p.Met254Val
ENST00000262878.5:c.760A>G ENSP00000262878.5:p.Met254Val
ENST00000642186.1:c.760A>G ENSP00000494436.1:p.Met254Val
ENST00000642246.1:c.*439A>G ENSP00000494979.1:n.*439A>G
ENST00000642616.1:c.*237A>G ENSP00000494271.1:n.*237A>G
ENST00000643078.1:c.*439A>G ENSP00000496474.1:n.*439A>G
ENST00000643161.1:n.323A>G
ENST00000643918.1:c.760A>G ENSP00000493928.1:p.Met254Val
ENST00000644114.1:c.686A>G
ENST00000644688.1:n.73A>G
ENST00000645033.1:c.760A>G ENSP00000494520.1:p.Met254Val
ENST00000645444.1:c.528A>G
ENST00000646066.1:c.760A>G ENSP00000495432.1:p.Met254Val
ENST00000646673.2:c.760A>G MANE Select ENSP00000493536.2:p.Met254Val
ENST00000646866.1:c.*209A>G ENSP00000495737.1:n.*209A>G
ENST00000646869.1:c.760A>G ENSP00000495667.1:p.Met254Val
ENST00000646904.1:c.760A>G ENSP00000494823.1:p.Met254Val
ENST00000647095.1:n.831A>G
ENST00000647163.1:c.760A>G ENSP00000494313.1:p.Met254Val
ENST00000647459.1:n.787A>G
ENST00000262878.4:c.760A>G ENSP00000262878.4:p.Met254Val
NM_015474.3:c.760A>G , LRG_281t1:c.760A>G NP_056289.2:p.Met254Val
XM_005260384.2:c.760A>G XP_005260441.1:p.Met254Val
XM_011528761.1:c.760A>G XP_011527063.1:p.Met254Val
NM_001363729.1:c.760A>G NP_001350658.1:p.Met254Val
NM_001363733.1:c.760A>G NP_001350662.1:p.Met254Val
NM_001363729.2:c.760A>G NP_001350658.1:p.Met254Val
NM_001363733.2:c.760A>G NP_001350662.1:p.Met254Val
NM_015474.4:c.760A>G MANE Select NP_056289.2:p.Met254Val