Canonical Allele Identifier: CA2362320075

Gene: SAMHD1

Linked Data

• dbSNP Id: rs2063563002
• gnomAD v4: 20-36930708-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36930709dup , CM000682.2:g.36930709dup	GRCh38
NC_000020.10:g.35559112dup , CM000682.1:g.35559112dup	GRCh37
NC_000020.9:g.34992526dup	NCBI36
NG_017059.1:g.26135dup , LRG_281:g.26135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.625+51dup	ENSP00000494354.2:n.625+51dup
ENST00000644250.2:c.625+51dup	ENSP00000493810.2:n.625+51dup
ENST00000644688.2:n.687+51dup
ENST00000645444.2:c.625+51dup	ENSP00000495381.2:n.625+51dup
ENST00000682773.1:c.625+51dup	ENSP00000507178.1:n.625+51dup
ENST00000683720.1:c.625+51dup	ENSP00000508219.1:n.625+51dup
ENST00000683766.1:c.625+51dup	ENSP00000506877.1:n.625+51dup
ENST00000262878.5:c.625+51dup	ENSP00000262878.5:n.625+51dup
ENST00000642186.1:c.625+51dup	ENSP00000494436.1:n.625+51dup
ENST00000642246.1:c.*304+51dup	ENSP00000494979.1:n.*304+51dup
ENST00000642616.1:c.*102+51dup	ENSP00000494271.1:n.*102+51dup
ENST00000643078.1:c.*304+51dup	ENSP00000496474.1:n.*304+51dup
ENST00000643161.1:n.188+51dup
ENST00000643918.1:c.625+51dup	ENSP00000493928.1:n.625+51dup
ENST00000644114.1:c.551+51dup
ENST00000645033.1:c.625+51dup	ENSP00000494520.1:n.625+51dup
ENST00000645444.1:c.393+51dup
ENST00000646066.1:c.625+51dup	ENSP00000495432.1:n.625+51dup
ENST00000646121.1:c.342+51dup
ENST00000646673.2:c.625+51dup MANE Select	ENSP00000493536.2:n.625+51dup
ENST00000646866.1:c.*74+51dup	ENSP00000495737.1:n.*74+51dup
ENST00000646869.1:c.625+51dup	ENSP00000495667.1:n.625+51dup
ENST00000646904.1:c.625+51dup	ENSP00000494823.1:n.625+51dup
ENST00000647095.1:n.696+51dup
ENST00000647163.1:c.625+51dup	ENSP00000494313.1:n.625+51dup
ENST00000647459.1:n.652+51dup
ENST00000262878.4:c.625+51dup	ENSP00000262878.4:n.625+51dup
NM_015474.3:c.625+51dup , LRG_281t1:c.625+51dup	NP_056289.2:n.625+51dup
XM_005260384.2:c.625+51dup	XP_005260441.1:n.625+51dup
XM_011528761.1:c.625+51dup	XP_011527063.1:n.625+51dup
NM_001363729.1:c.625+51dup	NP_001350658.1:n.625+51dup
NM_001363733.1:c.625+51dup	NP_001350662.1:n.625+51dup
NM_001363729.2:c.625+51dup	NP_001350658.1:n.625+51dup
NM_001363733.2:c.625+51dup	NP_001350662.1:n.625+51dup
NM_015474.4:c.625+51dup MANE Select	NP_056289.2:n.625+51dup