UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
7-92098024-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92098024G>T , CM000669.2:g.92098024G>T | GRCh38 |
| NC_000007.13:g.91727338G>T , CM000669.1:g.91727338G>T | GRCh37 |
| NC_000007.12:g.91565274G>T | NCBI36 |
| NG_011623.1:g.162150G>T , LRG_331:g.162150G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-12422C>A (CYP51A1) | ENSP00000510368.1:n.1352-12422C>A | |
| ENST00000356239.8:c.10608-85G>T (AKAP9) MANE Select | ENSP00000348573.3:n.10608-85G>T | |
| ENST00000359028.7:c.10680-85G>T (AKAP9) | ENSP00000351922.4:n.10680-85G>T | |
| ENST00000394534.7:c.3600-85G>T (AKAP9) | ENSP00000378042.3:n.3600-85G>T | |
| ENST00000486313.2:c.96-85G>T (AKAP9) | ENSP00000505389.1:n.96-85G>T | |
| ENST00000487692.2:n.2686-85G>T (AKAP9) | ||
| ENST00000491695.2:c.5253-85G>T (AKAP9) | ENSP00000494626.2:n.5253-85G>T | |
| ENST00000679448.1:c.*1488-85G>T (AKAP9) | ENSP00000505889.1:n.*1488-85G>T | |
| ENST00000679457.1:c.10584-85G>T (AKAP9) | ENSP00000505450.1:n.10584-85G>T | |
| ENST00000679474.1:n.10806-85G>T (AKAP9) | ||
| ENST00000679521.1:c.10554-85G>T (AKAP9) | ENSP00000505456.1:n.10554-85G>T | |
| ENST00000679821.1:c.10350-85G>T (AKAP9) | ENSP00000506040.1:n.10350-85G>T | |
| ENST00000680047.1:n.10806-85G>T (AKAP9) | ||
| ENST00000680072.1:c.10431-85G>T (AKAP9) | ENSP00000506581.1:n.10431-85G>T | |
| ENST00000680181.1:c.10515-85G>T (AKAP9) | ENSP00000505548.1:n.10515-85G>T | |
| ENST00000680365.1:c.4247-85G>T (AKAP9) | ENSP00000506019.1:n.4247-85G>T | |
| ENST00000680513.1:c.10467-85G>T (AKAP9) | ENSP00000505284.1:n.10467-85G>T | |
| ENST00000680534.1:c.10647-85G>T (AKAP9) | ENSP00000506674.1:n.10647-85G>T | |
| ENST00000680766.1:c.10584-85G>T (AKAP9) | ENSP00000505204.1:n.10584-85G>T | |
| ENST00000680952.1:c.10584-85G>T (AKAP9) | ENSP00000506407.1:n.10584-85G>T | |
| ENST00000681216.1:c.4368-85G>T (AKAP9) | ENSP00000505551.1:n.4368-85G>T | |
| ENST00000681412.1:c.10608-85G>T (AKAP9) | ENSP00000506486.1:n.10608-85G>T | |
| ENST00000681722.1:c.10584-85G>T (AKAP9) | ENSP00000506566.1:n.10584-85G>T | |
| ENST00000356239.7:c.10608-85G>T (AKAP9) | ENSP00000348573.3:n.10608-85G>T | |
| ENST00000359028.6:c.10617-85G>T (AKAP9) | ENSP00000351922.3:n.10617-85G>T | |
| ENST00000394534.6:c.4146-85G>T (AKAP9) | ENSP00000378042.2:n.4146-85G>T | |
| ENST00000487258.5:n.2358-85G>T (AKAP9) | ||
| ENST00000487692.1:n.408-85G>T (AKAP9) | ||
| NM_005751.4:c.10608-85G>T , LRG_331t1:c.10608-85G>T (AKAP9) | NP_005742.4:n.10608-85G>T | |
| NM_147185.2:c.10584-85G>T (AKAP9) | NP_671714.1:n.10584-85G>T | |
| XM_006715827.1:c.10467-85G>T (AKAP9) | XP_006715890.1:n.10467-85G>T | |
| XM_011515709.1:c.10755-85G>T (AKAP9) | XP_011514011.1:n.10755-85G>T | |
| XM_011515710.1:c.10779-85G>T (AKAP9) | XP_011514012.1:n.10779-85G>T | |
| XM_011515711.1:c.10719-85G>T (AKAP9) | XP_011514013.1:n.10719-85G>T | |
| XM_011515712.1:c.10716-85G>T (AKAP9) | XP_011514014.1:n.10716-85G>T | |
| XM_011515713.1:c.10701-85G>T (AKAP9) | XP_011514015.1:n.10701-85G>T | |
| XM_011515714.1:c.10740-85G>T (AKAP9) | XP_011514016.1:n.10740-85G>T | |
| XM_011515716.1:c.10659-85G>T (AKAP9) | XP_011514018.1:n.10659-85G>T | |
| XM_011515717.1:c.10614-85G>T (AKAP9) | XP_011514019.1:n.10614-85G>T | |
| XM_011515718.1:c.10644-85G>T (AKAP9) | XP_011514020.1:n.10644-85G>T | |
| XM_011515719.1:c.10620-85G>T (AKAP9) | XP_011514021.1:n.10620-85G>T | |
| XM_011515721.1:c.5268-85G>T (AKAP9) | XP_011514023.1:n.5268-85G>T | |
| XM_011515722.1:c.5229-85G>T (AKAP9) | XP_011514024.1:n.5229-85G>T | |
| XM_017011642.2:c.10743-85G>T (AKAP9) | XP_016867131.1:n.10743-85G>T | |
| XM_017011643.2:c.10704-85G>T (AKAP9) | XP_016867132.1:n.10704-85G>T | |
| XM_017011644.2:c.10743-85G>T (AKAP9) | XP_016867133.1:n.10743-85G>T | |
| XM_017011645.2:c.10689-85G>T (AKAP9) | XP_016867134.1:n.10689-85G>T | |
| XM_017011646.2:c.10704-85G>T (AKAP9) | XP_016867135.1:n.10704-85G>T | |
| XM_017011647.2:c.10650-85G>T (AKAP9) | XP_016867136.1:n.10650-85G>T | |
| XM_017011648.2:c.10647-85G>T (AKAP9) | XP_016867137.1:n.10647-85G>T | |
| XM_017011649.2:c.10680-85G>T (AKAP9) | XP_016867138.1:n.10680-85G>T | |
| XM_017011650.2:c.10608-85G>T (AKAP9) | XP_016867139.1:n.10608-85G>T | |
| XM_017011651.2:c.10602-85G>T (AKAP9) | XP_016867140.1:n.10602-85G>T | |
| XM_017011652.2:c.10554-85G>T (AKAP9) | XP_016867141.1:n.10554-85G>T | |
| XM_017011653.2:c.10515-85G>T (AKAP9) | XP_016867142.1:n.10515-85G>T | |
| XM_017011654.2:c.10467-85G>T (AKAP9) | XP_016867143.1:n.10467-85G>T | |
| XM_017011655.2:c.10371-85G>T (AKAP9) | XP_016867144.1:n.10371-85G>T | |
| XM_017011656.2:c.10371-85G>T (AKAP9) | XP_016867145.1:n.10371-85G>T | |
| XM_017011657.2:c.6408-85G>T (AKAP9) | XP_016867146.1:n.6408-85G>T | |
| XM_017011658.2:c.5292-85G>T (AKAP9) | XP_016867147.1:n.5292-85G>T | |
| XM_017011659.2:c.5253-85G>T (AKAP9) | XP_016867148.1:n.5253-85G>T | |
| XM_017011660.2:c.5253-85G>T (AKAP9) | XP_016867149.1:n.5253-85G>T | |
| XM_024446631.1:c.10506-85G>T (AKAP9) | XP_024302399.1:n.10506-85G>T | |
| NM_147185.3:c.10584-85G>T (AKAP9) | NP_671714.1:n.10584-85G>T | |
| NM_001379277.1:c.5253-85G>T (AKAP9) | NP_001366206.1:n.5253-85G>T | |
| NM_005751.5:c.10608-85G>T (AKAP9) MANE Select | NP_005742.4:n.10608-85G>T |