Canonical Allele Identifier: CA2375951
Gene: ATRIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48450188T>C , CM000665.2:g.48450188T>C GRCh38
NC_000003.11:g.48491594T>C , CM000665.1:g.48491594T>C GRCh37
NC_000003.10:g.48466598T>C NCBI36
NG_041782.1:g.8479T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.381+18T>C MANE Select ENSP00000323099.3:n.381+18T>C
ENST00000639561.1:c.102+18T>C ENSP00000491983.1:n.102+18T>C
ENST00000320211.8:c.381+18T>C ENSP00000323099.3:n.381+18T>C
ENST00000346691.9:c.381+18T>C ENSP00000302338.5:n.381+18T>C
ENST00000357105.10:c.-84+18T>C ENSP00000349620.6:n.-84+18T>C
ENST00000412052.4:c.102+18T>C ENSP00000400930.1:n.102+18T>C
ENST00000634384.1:c.102+18T>C ENSP00000489041.1:n.102+18T>C
ENST00000635082.1:c.102+18T>C ENSP00000489136.1:n.102+18T>C
ENST00000635099.1:c.102+18T>C ENSP00000489608.1:n.102+18T>C
ENST00000635464.1:c.381+18T>C ENSP00000489199.1:n.381+18T>C
NM_001271022.1:c.-84+18T>C NP_001257951.1:n.-84+18T>C
NM_001271023.1:c.102+18T>C NP_001257952.1:n.102+18T>C
NM_032166.3:c.381+18T>C NP_115542.2:n.381+18T>C
NM_130384.2:c.381+18T>C NP_569055.1:n.381+18T>C
NR_153405.1:n.448+18T>C
NM_130384.3:c.381+18T>C MANE Select NP_569055.1:n.381+18T>C
NM_001271023.2:c.102+18T>C NP_001257952.1:n.102+18T>C
NM_032166.4:c.381+18T>C NP_115542.2:n.381+18T>C
NM_001271022.2:c.-84+18T>C NP_001257951.1:n.-84+18T>C