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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154170467T= , CM000663.2:g.154170467T= | GRCh38 |
| NC_000001.10:g.154142943T= , CM000663.1:g.154142943T= | GRCh37 |
| NC_000001.9:g.152409567T= | NCBI36 |
| NG_008621.1:g.26667A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611659.5:c.534A= | ENSP00000480520.1:p.Ala178= | |
| ENST00000312970.13:n.564A= | ||
| ENST00000323144.12:c.597A= | ENSP00000357518.4:p.Ala199= | |
| ENST00000328159.9:c.597A= | ENSP00000357520.1:p.Ala199= | |
| ENST00000341372.8:c.*313A= | ENSP00000339378.4:n.*313A= | |
| ENST00000341485.10:c.597A= | ENSP00000341653.6:p.Ala199= | |
| ENST00000368530.7:c.708A= | ENSP00000357516.3:p.Ala236= | |
| ENST00000368533.8:c.597A= | ENSP00000357521.3:p.Ala199= | |
| ENST00000651641.1:c.708A= MANE Select | ENSP00000498577.1:p.Ala236= | |
| ENST00000651731.1:c.77A= | ||
| ENST00000651873.1:c.618A= | ||
| ENST00000271850.11:c.708A= | ENSP00000271850.7:p.Ala236= | |
| ENST00000302206.9:c.327A= | ENSP00000307712.5:p.Ala109= | |
| ENST00000312970.12:n.487A= | ||
| ENST00000323144.11:c.597A= | ENSP00000357518.4:p.Ala199= | |
| ENST00000328159.8:c.597A= | ENSP00000357520.1:p.Ala199= | |
| ENST00000330188.13:c.597A= | ENSP00000339035.7:p.Ala199= | |
| ENST00000341372.7:c.522A= | ENSP00000339378.3:p.Ala174= | |
| ENST00000341485.9:c.549A= | ENSP00000341653.5:p.Ala183= | |
| ENST00000368530.6:c.708A= | ENSP00000357516.2:p.Ala236= | |
| ENST00000368531.6:c.597A= | ENSP00000357517.2:p.Ala199= | |
| ENST00000368533.7:c.597A= | ENSP00000357521.3:p.Ala199= | |
| ENST00000368545.7:n.715A= | ||
| ENST00000469717.5:n.2611A= | ||
| ENST00000504663.1:n.55A= | ||
| ENST00000509409.5:c.*313A= | ENSP00000426521.1:n.*313A= | |
| ENST00000509601.1:c.*107A= | ENSP00000422207.1:n.*107A= | |
| ENST00000513769.5:n.282A= | ||
| ENST00000611659.4:c.534A= | ENSP00000480520.1:p.Ala178= | |
| NM_001043351.1:c.597A= | NP_001036816.1:p.Ala199= | |
| NM_001043352.1:c.597A= | NP_001036817.1:p.Ala199= | |
| NM_001043353.1:c.597A= | NP_001036818.1:p.Ala199= | |
| NM_001278188.1:c.399A= | NP_001265117.1:p.Ala133= | |
| NM_001278189.1:c.597A= | NP_001265118.1:p.Ala199= | |
| NM_001278190.1:c.534A= | NP_001265119.1:p.Ala178= | |
| NM_001278191.1:c.327A= | NP_001265120.1:p.Ala109= | |
| NM_152263.3:c.708A= | NP_689476.2:p.Ala236= | |
| NM_153649.3:c.597A= | NP_705935.1:p.Ala199= | |
| NR_103461.1:n.725-2A= | ||
| XM_006711515.1:c.708A= | XP_006711578.1:p.Ala236= | |
| XM_006711517.1:c.708A= | XP_006711580.1:p.Ala236= | |
| XM_006711518.1:c.708A= | XP_006711581.1:p.Ala236= | |
| XM_006711519.1:c.708A= | XP_006711582.1:p.Ala236= | |
| XM_006711520.1:c.708A= | XP_006711583.1:p.Ala236= | |
| XM_006711521.1:c.708A= | XP_006711584.1:p.Ala236= | |
| XM_006711522.2:c.597A= | XP_006711585.1:p.Ala199= | |
| XM_006711523.2:c.597A= | XP_006711586.1:p.Ala199= | |
| XM_011509950.1:c.708A= | XP_011508252.1:p.Ala236= | |
| XM_011509951.1:c.708A= | XP_011508253.1:p.Ala236= | |
| XM_011509952.1:c.597A= | XP_011508254.1:p.Ala199= | |
| XM_011509953.1:c.597A= | XP_011508255.1:p.Ala199= | |
| XM_011509954.1:c.597A= | XP_011508256.1:p.Ala199= | |
| NM_001349679.1:c.597A= | NP_001336608.1:p.Ala199= | |
| NM_001364679.1:c.708A= | NP_001351608.1:p.Ala236= | |
| NM_001364680.1:c.708A= | NP_001351609.1:p.Ala236= | |
| NM_001364681.1:c.708A= | NP_001351610.1:p.Ala236= | |
| NM_001364682.1:c.708A= | NP_001351611.1:p.Ala236= | |
| NM_001364683.1:c.597A= | NP_001351612.1:p.Ala199= | |
| NM_152263.4:c.708A= MANE Select | NP_689476.2:p.Ala236= | |
| NM_001043351.2:c.597A= | NP_001036816.1:p.Ala199= | |
| NM_001043352.2:c.597A= | NP_001036817.1:p.Ala199= | |
| NM_001043353.2:c.597A= | NP_001036818.1:p.Ala199= | |
| NM_001278188.2:c.399A= | NP_001265117.1:p.Ala133= | |
| NM_001278189.2:c.597A= | NP_001265118.1:p.Ala199= | |
| NM_001278191.2:c.327A= | NP_001265120.1:p.Ala109= | |
| NM_001349679.2:c.597A= | NP_001336608.1:p.Ala199= | |
| NM_001364679.2:c.708A= | NP_001351608.1:p.Ala236= | |
| NM_001364680.2:c.708A= | NP_001351609.1:p.Ala236= | |
| NM_001364681.2:c.708A= | NP_001351610.1:p.Ala236= | |
| NM_153649.4:c.597A= | NP_705935.1:p.Ala199= | |
| NR_103461.2:n.694-2A= | ||
| NM_001278190.2:c.534A= | NP_001265119.1:p.Ala178= |