Canonical Allele Identifier: CA1363031264

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467253G= , CM000665.2:g.48467253G= GRCh38
NC_000003.11:g.48508652G= , CM000665.1:g.48508652G= GRCh37
NC_000003.10:g.48483656G= NCBI36
NG_009820.1:g.6424G=
NG_033100.1:g.38608C=
NG_041782.1:g.25544G=
NG_009820.2:g.6424G=

Transcript Alleles

HGVS Amino-acid change
ENST00000320211.10:c.*1699G= (ATRIP) MANE Select ENSP00000323099.3:n.*1699G=
ENST00000492235.2:c.181G= (TREX1) ENSP00000494511.1:p.Asp61=
ENST00000625293.3:c.598G= (TREX1) MANE Select ENSP00000486676.2:p.Asp200=
ENST00000634384.2:c.3193G= (ATRIP)
ENST00000635452.2:c.181G= (TREX1) ENSP00000492023.2:p.Asp61=
ENST00000296443.11:c.598G= ENSP00000296443.11:p.Asp200=
ENST00000433541.1:c.181G= (TREX1) ENSP00000412404.1:p.Asp61=
ENST00000444177.1:c.568G= (TREX1) ENSP00000415972.1:p.Asp190=
ENST00000456089.1:c.181G= (TREX1) ENSP00000411331.1:p.Asp61=
ENST00000492235.1:n.516G= (TREX1)
ENST00000625293.1:c.763G= (TREX1) ENSP00000486676.1:p.Asp255=
ENST00000629913.1:c.598G= (TREX1) ENSP00000486444.1:p.Asp200=
ENST00000634384.1:c.*3418G= ENSP00000489041.1:n.*3418G=
ENST00000635452.1:n.1805G=
ENST00000635464.1:c.3551G= ENSP00000489199.1:n.3551G=
NM_007248.3:c.568G= (TREX1) NP_009179.2:p.Asp190=
NM_016381.5:c.763G= (TREX1) NP_057465.1:p.Asp255=
NM_033629.4:c.598G= (TREX1) NP_338599.1:p.Asp200=
NM_007248.4:c.568G= (TREX1) NP_009179.2:p.Asp190=
NM_033629.5:c.598G= (TREX1) NP_338599.1:p.Asp200=
NR_153405.1:n.3907G=
NM_033629.6:c.598G= (TREX1) MANE Select NP_338599.1:p.Asp200=
NM_130384.3:c.*1699G= (ATRIP) MANE Select NP_569055.1:n.*1699G=
NM_001271023.2:c.*1699G= (ATRIP) NP_001257952.1:n.*1699G=
NM_007248.5:c.568G= (TREX1) NP_009179.2:p.Asp190=
NM_032166.4:c.*1699G= (ATRIP) NP_115542.2:n.*1699G=
NM_001271022.2:c.*1699G= (ATRIP) NP_001257951.1:n.*1699G=