Canonical Allele Identifier: CA9844739

Gene: SAMHD1

Linked Data

• dbSNP Id: rs762586258
• ExAC: 20:35563525 G / A
• gnomAD v2: 20-35563525-G-A
• gnomAD v4: 20-36935122-G-A
• MyVariant Identifiers: chr20:g.35563525G>A (hg19) ; chr20:g.36935122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36935122G>A , CM000682.2:g.36935122G>A	GRCh38
NC_000020.10:g.35563525G>A , CM000682.1:g.35563525G>A	GRCh37
NC_000020.9:g.34996939G>A	NCBI36
NG_017059.1:g.21722C>T , LRG_281:g.21722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.416C>T	ENSP00000494354.2:p.Pro139Leu
ENST00000644250.2:c.416C>T	ENSP00000493810.2:p.Pro139Leu
ENST00000644688.2:n.478C>T
ENST00000645444.2:c.416C>T	ENSP00000495381.2:p.Pro139Leu
ENST00000682773.1:c.416C>T	ENSP00000507178.1:p.Pro139Leu
ENST00000683720.1:c.416C>T	ENSP00000508219.1:p.Pro139Leu
ENST00000683766.1:c.416C>T	ENSP00000506877.1:p.Pro139Leu
ENST00000262878.5:c.416C>T	ENSP00000262878.5:p.Pro139Leu
ENST00000642186.1:c.416C>T	ENSP00000494436.1:p.Pro139Leu
ENST00000642246.1:c.*95C>T	ENSP00000494979.1:n.*95C>T
ENST00000642616.1:c.416C>T	ENSP00000494271.1:p.Pro139Leu
ENST00000643003.1:n.82C>T
ENST00000643078.1:c.*95C>T	ENSP00000496474.1:n.*95C>T
ENST00000643918.1:c.416C>T	ENSP00000493928.1:p.Pro139Leu
ENST00000644114.1:c.342C>T
ENST00000644370.1:n.357C>T
ENST00000645033.1:c.416C>T	ENSP00000494520.1:p.Pro139Leu
ENST00000645444.1:c.184C>T
ENST00000646066.1:c.416C>T	ENSP00000495432.1:p.Pro139Leu
ENST00000646121.1:c.227-4247C>T
ENST00000646673.2:c.416C>T MANE Select	ENSP00000493536.2:p.Pro139Leu
ENST00000646866.1:c.349-4247C>T	ENSP00000495737.1:n.349-4247C>T
ENST00000646869.1:c.416C>T	ENSP00000495667.1:p.Pro139Leu
ENST00000646904.1:c.416C>T	ENSP00000494823.1:p.Pro139Leu
ENST00000647095.1:n.487C>T
ENST00000647163.1:c.416C>T	ENSP00000494313.1:p.Pro139Leu
ENST00000647459.1:n.443C>T
ENST00000262878.4:c.416C>T	ENSP00000262878.4:p.Pro139Leu
NM_015474.3:c.416C>T , LRG_281t1:c.416C>T	NP_056289.2:p.Pro139Leu
XM_005260384.2:c.416C>T	XP_005260441.1:p.Pro139Leu
XM_011528761.1:c.416C>T	XP_011527063.1:p.Pro139Leu
NM_001363729.1:c.416C>T	NP_001350658.1:p.Pro139Leu
NM_001363733.1:c.416C>T	NP_001350662.1:p.Pro139Leu
NM_001363729.2:c.416C>T	NP_001350658.1:p.Pro139Leu
NM_001363733.2:c.416C>T	NP_001350662.1:p.Pro139Leu
NM_015474.4:c.416C>T MANE Select	NP_056289.2:p.Pro139Leu