Canonical Allele Identifier: CA1363031481

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467645A= , CM000665.2:g.48467645A= GRCh38
NC_000003.11:g.48509044A= , CM000665.1:g.48509044A= GRCh37
NC_000003.10:g.48484048A= NCBI36
NG_009820.1:g.6816A=
NG_033100.1:g.38216T=
NG_041782.1:g.25936A=
NG_009820.2:g.6816A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2091A= (ATRIP) MANE Select ENSP00000323099.3:n.*2091A=
ENST00000625293.3:c.*45A= (TREX1) MANE Select ENSP00000486676.2:n.*45A=
ENST00000634384.2:c.3585A= (ATRIP)
ENST00000433541.1:c.*45A= (TREX1) ENSP00000412404.1:n.*45A=
ENST00000456089.1:c.*45A= (TREX1) ENSP00000411331.1:n.*45A=
ENST00000625293.1:c.*45A= (TREX1) ENSP00000486676.1:n.*45A=
ENST00000634384.1:c.*3810A= ENSP00000489041.1:n.*3810A=
ENST00000635452.1:n.2197A=
ENST00000635464.1:c.3943A= ENSP00000489199.1:n.3943A=
NM_007248.3:c.*45A= (TREX1) NP_009179.2:n.*45A=
NM_016381.5:c.*45A= (TREX1) NP_057465.1:n.*45A=
NM_033629.4:c.*45A= (TREX1) NP_338599.1:n.*45A=
NM_007248.4:c.*45A= (TREX1) NP_009179.2:n.*45A=
NM_033629.5:c.*45A= (TREX1) NP_338599.1:n.*45A=
NR_153405.1:n.4299A=
NM_033629.6:c.*45A= (TREX1) MANE Select NP_338599.1:n.*45A=
NM_130384.3:c.*2091A= (ATRIP) MANE Select NP_569055.1:n.*2091A=
NM_001271023.2:c.*2091A= (ATRIP) NP_001257952.1:n.*2091A=
NM_007248.5:c.*45A= (TREX1) NP_009179.2:n.*45A=
NM_032166.4:c.*2091A= (ATRIP) NP_115542.2:n.*2091A=
NM_001271022.2:c.*2091A= (ATRIP) NP_001257951.1:n.*2091A=