Canonical Allele Identifier: CA10643807

Gene: SAMHD1 TLDC2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36891924G>C , CM000682.2:g.36891924G>C	GRCh38
NC_000020.10:g.35520327G>C , CM000682.1:g.35520327G>C	GRCh37
NC_000020.9:g.34953741G>C	NCBI36
NG_017059.1:g.64920C>G , LRG_281:g.64920C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015474.4:c.*1008C>G (SAMHD1) MANE Select	NP_056289.2:n.*1008C>G
NM_080628.3:c.*18-938G>C (TLDC2) MANE Select	NP_542195.1:n.*18-938G>C
ENST00000217320.8:c.*18-938G>C (TLDC2) MANE Select	ENSP00000217320.3:n.*18-938G>C
ENST00000646673.2:c.*1008C>G (SAMHD1) MANE Select	ENSP00000493536.2:n.*1008C>G
NM_001304783.1:c.*18-938G>C (TLDC2)	NP_001291712.1:n.*18-938G>C
NM_001363729.1:c.*1008C>G (SAMHD1)	NP_001350658.1:n.*1008C>G
NM_001363729.2:c.*1008C>G (SAMHD1)	NP_001350658.1:n.*1008C>G
NM_015474.3:c.*1008C>G , LRG_281t1:c.*1008C>G (SAMHD1)	NP_056289.2:n.*1008C>G
NM_080628.2:c.*18-938G>C (TLDC2)	NP_542195.1:n.*18-938G>C
ENST00000217320.7:c.*18-938G>C (TLDC2)	ENSP00000217320.3:n.*18-938G>C
ENST00000262878.4:c.*1008C>G (SAMHD1)	ENSP00000262878.4:n.*1008C>G
ENST00000262878.5:c.*1008C>G (SAMHD1)	ENSP00000262878.5:n.*1008C>G
ENST00000436941.1:c.75-938G>C (TLDC2)	ENSP00000394804.1:n.75-938G>C
ENST00000642246.1:c.*2568C>G (SAMHD1)	ENSP00000494979.1:n.*2568C>G
ENST00000644250.1:c.449-130C>G (SAMHD1)	ENSP00000493810.1:n.449-130C>G
ENST00000644250.2:c.*314-130C>G (SAMHD1)	ENSP00000493810.2:n.*314-130C>G
ENST00000645033.1:c.*2066C>G (SAMHD1)	ENSP00000494520.1:n.*2066C>G
ENST00000646869.1:c.*354-117C>G (SAMHD1)	ENSP00000495667.1:n.*354-117C>G
ENST00000646904.1:c.*2095C>G (SAMHD1)	ENSP00000494823.1:n.*2095C>G
ENST00000647095.1:n.4087C>G (SAMHD1)
ENST00000647163.1:c.*1228-123C>G (SAMHD1)	ENSP00000494313.1:n.*1228-123C>G
ENST00000682773.1:c.*125-117C>G (SAMHD1)	ENSP00000507178.1:n.*125-117C>G
ENST00000683766.1:c.*353+655C>G (SAMHD1)	ENSP00000506877.1:n.*353+655C>G