Canonical Allele Identifier: CA408822070

Gene: SAMHD1

Linked Data

• MyVariant Identifiers: chr20:g.35559193C>G (hg19) ; chr20:g.36930790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36930790C>G , CM000682.2:g.36930790C>G	GRCh38
NC_000020.10:g.35559193C>G , CM000682.1:g.35559193C>G	GRCh37
NC_000020.9:g.34992607C>G	NCBI36
NG_017059.1:g.26054G>C , LRG_281:g.26054G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644114.2:c.595G>C	ENSP00000494354.2:p.Val199Leu
ENST00000644250.2:c.595G>C	ENSP00000493810.2:p.Val199Leu
ENST00000644688.2:n.657G>C
ENST00000645444.2:c.595G>C	ENSP00000495381.2:p.Val199Leu
ENST00000682773.1:c.595G>C	ENSP00000507178.1:p.Val199Leu
ENST00000683720.1:c.595G>C	ENSP00000508219.1:p.Val199Leu
ENST00000683766.1:c.595G>C	ENSP00000506877.1:p.Val199Leu
ENST00000262878.5:c.595G>C	ENSP00000262878.5:p.Val199Leu
ENST00000642186.1:c.595G>C	ENSP00000494436.1:p.Val199Leu
ENST00000642246.1:c.*274G>C	ENSP00000494979.1:n.*274G>C
ENST00000642616.1:c.*72G>C	ENSP00000494271.1:n.*72G>C
ENST00000643078.1:c.*274G>C	ENSP00000496474.1:n.*274G>C
ENST00000643161.1:n.158G>C
ENST00000643918.1:c.595G>C	ENSP00000493928.1:p.Val199Leu
ENST00000644114.1:c.521G>C
ENST00000645033.1:c.595G>C	ENSP00000494520.1:p.Val199Leu
ENST00000645444.1:c.363G>C
ENST00000646066.1:c.595G>C	ENSP00000495432.1:p.Val199Leu
ENST00000646121.1:c.312G>C
ENST00000646673.2:c.595G>C MANE Select	ENSP00000493536.2:p.Val199Leu
ENST00000646866.1:c.*44G>C	ENSP00000495737.1:n.*44G>C
ENST00000646869.1:c.595G>C	ENSP00000495667.1:p.Val199Leu
ENST00000646904.1:c.595G>C	ENSP00000494823.1:p.Val199Leu
ENST00000647095.1:n.666G>C
ENST00000647163.1:c.595G>C	ENSP00000494313.1:p.Val199Leu
ENST00000647459.1:n.622G>C
ENST00000262878.4:c.595G>C	ENSP00000262878.4:p.Val199Leu
NM_015474.3:c.595G>C , LRG_281t1:c.595G>C	NP_056289.2:p.Val199Leu
XM_005260384.2:c.595G>C	XP_005260441.1:p.Val199Leu
XM_011528761.1:c.595G>C	XP_011527063.1:p.Val199Leu
NM_001363729.1:c.595G>C	NP_001350658.1:p.Val199Leu
NM_001363733.1:c.595G>C	NP_001350662.1:p.Val199Leu
NM_001363729.2:c.595G>C	NP_001350658.1:p.Val199Leu
NM_001363733.2:c.595G>C	NP_001350662.1:p.Val199Leu
NM_015474.4:c.595G>C MANE Select	NP_056289.2:p.Val199Leu