Canonical Allele Identifier: CA352617193

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466753A>G , CM000665.2:g.48466753A>G GRCh38
NC_000003.11:g.48508152A>G , CM000665.1:g.48508152A>G GRCh37
NC_000003.10:g.48483156A>G NCBI36
NG_009820.1:g.5924A>G
NG_033100.1:g.39108T>C
NG_041782.1:g.25044A>G
NG_009820.2:g.5924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1199A>G (ATRIP) MANE Select ENSP00000323099.3:n.*1199A>G
ENST00000492235.2:c.-295-25A>G (TREX1) ENSP00000494511.1:n.-295-25A>G
ENST00000625293.3:c.98A>G (TREX1) MANE Select ENSP00000486676.2:p.Glu33Gly
ENST00000634384.2:c.2693A>G (ATRIP)
ENST00000635452.2:c.-320A>G (TREX1) ENSP00000492023.2:n.-320A>G
ENST00000296443.11:c.98A>G ENSP00000296443.11:p.Glu33Gly
ENST00000433541.1:c.-320A>G (TREX1) ENSP00000412404.1:n.-320A>G
ENST00000444177.1:c.68A>G (TREX1) ENSP00000415972.1:p.Glu23Gly
ENST00000456089.1:c.-8-312A>G (TREX1) ENSP00000411331.1:n.-8-312A>G
ENST00000492235.1:n.41-25A>G (TREX1)
ENST00000625293.1:c.263A>G (TREX1) ENSP00000486676.1:p.Glu88Gly
ENST00000629913.1:c.98A>G (TREX1) ENSP00000486444.1:p.Glu33Gly
ENST00000634384.1:c.*2918A>G ENSP00000489041.1:n.*2918A>G
ENST00000635452.1:n.1305A>G
ENST00000635464.1:c.3051A>G ENSP00000489199.1:n.3051A>G
NM_007248.3:c.68A>G (TREX1) NP_009179.2:p.Glu23Gly
NM_016381.5:c.263A>G (TREX1) NP_057465.1:p.Glu88Gly
NM_033629.4:c.98A>G (TREX1) NP_338599.1:p.Glu33Gly
NM_007248.4:c.68A>G (TREX1) NP_009179.2:p.Glu23Gly
NM_033629.5:c.98A>G (TREX1) NP_338599.1:p.Glu33Gly
NR_153405.1:n.3407A>G
NM_033629.6:c.98A>G (TREX1) MANE Select NP_338599.1:p.Glu33Gly
NM_130384.3:c.*1199A>G (ATRIP) MANE Select NP_569055.1:n.*1199A>G
NM_001271023.2:c.*1199A>G (ATRIP) NP_001257952.1:n.*1199A>G
NM_007248.5:c.68A>G (TREX1) NP_009179.2:p.Glu23Gly
NM_032166.4:c.*1199A>G (ATRIP) NP_115542.2:n.*1199A>G
NM_001271022.2:c.*1199A>G (ATRIP) NP_001257951.1:n.*1199A>G