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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117412166T>C , CM000673.2:g.117412166T>C | GRCh38 |
| NC_000011.9:g.117282882T>C , CM000673.1:g.117282882T>C | GRCh37 |
| NC_000011.8:g.116788092T>C | NCBI36 |
| NG_033032.1:g.95389T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014956.5:c.4381T>C MANE Select | NP_055771.4:p.Ter1461Arg |
| ENST00000278935.8:c.4381T>C MANE Select | ENSP00000278935.3:p.Ter1461Arg |
| NM_001271933.1:c.4366T>C | NP_001258862.1:p.Ter1456Arg |
| NM_001271933.2:c.4366T>C | NP_001258862.1:p.Ter1456Arg |
| NM_014956.4:c.4381T>C | NP_055771.4:p.Ter1461Arg |
| ENST00000278935.7:c.4381T>C | ENSP00000278935.3:p.Ter1461Arg |
| ENST00000528706.5:n.1234T>C | |
| ENST00000533433.1:n.901T>C | |
| ENST00000533675.5:n.4584T>C | |
| ENST00000533706.5:n.3935T>C | |
| XM_005271453.1:c.6067T>C | XP_005271510.1:p.Ter2023Arg |
| XM_005271456.1:c.4381T>C | XP_005271513.1:p.Ter1461Arg |
| XM_005271457.1:c.4366T>C | XP_005271514.1:p.Ter1456Arg |
| XM_006718788.1:c.6076T>C | XP_006718851.1:p.Ter2026Arg |
| XM_006718794.1:c.4303T>C | XP_006718857.1:p.Ter1435Arg |
| XM_011542670.1:c.6136T>C | XP_011540972.1:p.Ter2046Arg |
| XM_011542671.1:c.6136T>C | XP_011540973.1:p.Ter2046Arg |
| XM_011542672.1:c.6136T>C | XP_011540974.1:p.Ter2046Arg |
| XM_011542673.1:c.6133T>C | XP_011540975.1:p.Ter2045Arg |
| XM_011542674.1:c.6127T>C | XP_011540976.1:p.Ter2043Arg |
| XM_011542675.1:c.6112T>C | XP_011540977.1:p.Ter2038Arg |
| XM_011542676.1:c.6058T>C | XP_011540978.1:p.Ter2020Arg |
| XM_011542677.1:c.5998T>C | XP_011540979.1:p.Ter2000Arg |
| XM_011542678.1:c.5998T>C | XP_011540980.1:p.Ter2000Arg |
| XM_011542679.1:c.5989T>C | XP_011540981.1:p.Ter1997Arg |
| XM_011542680.1:c.5890T>C | XP_011540982.1:p.Ter1964Arg |
| XM_011542681.1:c.5779T>C | XP_011540983.1:p.Ter1927Arg |
| XM_011542682.1:c.4450T>C | XP_011540984.1:p.Ter1484Arg |
| XM_011542683.1:c.4450T>C | XP_011540985.1:p.Ter1484Arg |
| XM_011542685.1:c.4372T>C | XP_011540987.1:p.Ter1458Arg |
| XM_011542686.1:c.4372T>C | XP_011540988.1:p.Ter1458Arg |
| XM_011542687.1:c.4312T>C | XP_011540989.1:p.Ter1438Arg |
| XM_011542688.1:c.4111T>C | XP_011540990.1:p.Ter1371Arg |
| XM_017017364.1:c.6127T>C | XP_016872853.1:p.Ter2043Arg |
| XM_017017365.1:c.6127T>C | XP_016872854.1:p.Ter2043Arg |
| XM_017017366.1:c.6127T>C | XP_016872855.1:p.Ter2043Arg |
| XM_017017367.1:c.6127T>C | XP_016872856.1:p.Ter2043Arg |
| XM_017017368.1:c.6124T>C | XP_016872857.1:p.Ter2042Arg |
| XM_017017369.1:c.6103T>C | XP_016872858.1:p.Ter2035Arg |
| XM_017017370.1:c.6100T>C | XP_016872859.1:p.Ter2034Arg |
| XM_017017371.1:c.6049T>C | XP_016872860.1:p.Ter2017Arg |
| XM_017017372.1:c.5989T>C | XP_016872861.1:p.Ter1997Arg |
| XM_017017373.2:c.5989T>C | XP_016872862.1:p.Ter1997Arg |
| XM_017017374.1:c.5989T>C | XP_016872863.1:p.Ter1997Arg |
| XM_017017375.2:c.5989T>C | XP_016872864.1:p.Ter1997Arg |
| XM_017017376.1:c.5980T>C | XP_016872865.1:p.Ter1994Arg |
| XM_017017377.2:c.5881T>C | XP_016872866.1:p.Ter1961Arg |
| XM_017017378.1:c.5770T>C | XP_016872867.1:p.Ter1924Arg |
| XM_017017379.1:c.4441T>C | XP_016872868.1:p.Ter1481Arg |
| XM_017017380.1:c.4441T>C | XP_016872869.1:p.Ter1481Arg |
| XM_017017381.1:c.4363T>C | XP_016872870.1:p.Ter1455Arg |
| XM_017017382.1:c.4363T>C | XP_016872871.1:p.Ter1455Arg |
| XM_017017383.1:c.4303T>C | XP_016872872.1:p.Ter1435Arg |
| XM_017017384.1:c.4303T>C | XP_016872873.1:p.Ter1435Arg |
| XM_017017385.1:c.4102T>C | XP_016872874.1:p.Ter1368Arg |
| XM_017017386.1:c.4018T>C | XP_016872875.1:p.Ter1340Arg |
| XR_001747793.1:n.6912T>C | |
| XR_001747794.1:n.7042T>C | |
| XR_002957132.1:n.6775T>C | |
| XR_002957133.1:n.6715T>C | |
| XR_428971.2:n.6442T>C | |
| XR_428971.3:n.6442T>C | |
| XR_947808.1:n.7051T>C |