SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Canonical Allele Identifier:
CA2000590001
Community Standard Title: NC_000011.10:g.112164784A=
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164784A= , CM000673.2:g.112164784A= | GRCh38 |
| NC_000011.9:g.112035507A= , CM000673.1:g.112035507A= | GRCh37 |
| NC_000011.8:g.111540717A= | NCBI36 |
| NG_028143.1:g.4334T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000525987.5:n.320-5635A= | |
| ENST00000531744.5:c.315-5635A= | ENSP00000456957.1:n.315-5635A= |
| ENST00000532699.1:c.315-5635A= | ENSP00000456434.1:n.315-5635A= |