Canonical Allele Identifier: CA9844508

Gene: SAMHD1

Linked Data

• ClinVar Variation Id: 1640190
• ClinVar RCV Id: RCV002138232
• dbSNP Id: rs373910542
• ExAC: 20:35532670 C / T
• gnomAD v2: 20-35532670-C-T
• gnomAD v3: 20-36904267-C-T
• gnomAD v4: 20-36904267-C-T
• MyVariant Identifiers: chr20:g.35532670C>T (hg19) ; chr20:g.36904267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36904267C>T , CM000682.2:g.36904267C>T	GRCh38
NC_000020.10:g.35532670C>T , CM000682.1:g.35532670C>T	GRCh37
NC_000020.9:g.34966084C>T	NCBI36
NG_017059.1:g.52577G>A , LRG_281:g.52577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.1271-5723G>A	ENSP00000494354.2:n.1271-5723G>A
ENST00000644250.2:c.1411-18G>A	ENSP00000493810.2:n.1411-18G>A
ENST00000644688.2:n.1473-18G>A
ENST00000645444.2:c.*2811G>A	ENSP00000495381.2:n.*2811G>A
ENST00000682773.1:c.1411-18G>A	ENSP00000507178.1:n.1411-18G>A
ENST00000683720.1:c.1449-18G>A	ENSP00000508219.1:n.1449-18G>A
ENST00000683766.1:c.1411-18G>A	ENSP00000506877.1:n.1411-18G>A
ENST00000262878.5:c.1411-18G>A	ENSP00000262878.5:n.1411-18G>A
ENST00000465985.2:c.32-18G>A
ENST00000642186.1:c.*1715-18G>A	ENSP00000494436.1:n.*1715-18G>A
ENST00000642246.1:c.*1090-18G>A	ENSP00000494979.1:n.*1090-18G>A
ENST00000643825.1:c.34-18G>A	ENSP00000495448.1:n.34-18G>A
ENST00000643918.1:c.1411-18G>A	ENSP00000493928.1:n.1411-18G>A
ENST00000644114.1:c.1197-5723G>A
ENST00000644688.1:n.724-18G>A
ENST00000645033.1:c.*588-18G>A	ENSP00000494520.1:n.*588-18G>A
ENST00000645444.1:c.3449G>A
ENST00000646066.1:c.1201-18G>A	ENSP00000495432.1:n.1201-18G>A
ENST00000646673.2:c.1411-18G>A MANE Select	ENSP00000493536.2:n.1411-18G>A
ENST00000646869.1:c.1411-18G>A	ENSP00000495667.1:n.1411-18G>A
ENST00000646904.1:c.*617-18G>A	ENSP00000494823.1:n.*617-18G>A
ENST00000647095.1:n.2609-18G>A
ENST00000647163.1:c.*588-18G>A	ENSP00000494313.1:n.*588-18G>A
ENST00000647459.1:n.2565-18G>A
ENST00000262878.4:c.1411-18G>A	ENSP00000262878.4:n.1411-18G>A
ENST00000465985.1:n.32-18G>A
NM_015474.3:c.1411-18G>A , LRG_281t1:c.1411-18G>A	NP_056289.2:n.1411-18G>A
XM_005260384.2:c.1411-18G>A	XP_005260441.1:n.1411-18G>A
XM_011528761.1:c.1411-18G>A	XP_011527063.1:n.1411-18G>A
NM_001363729.1:c.1411-18G>A	NP_001350658.1:n.1411-18G>A
NM_001363733.1:c.1411-18G>A	NP_001350662.1:n.1411-18G>A
NM_001363729.2:c.1411-18G>A	NP_001350658.1:n.1411-18G>A
NM_001363733.2:c.1411-18G>A	NP_001350662.1:n.1411-18G>A
NM_015474.4:c.1411-18G>A MANE Select	NP_056289.2:n.1411-18G>A