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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35761257A>T , CM000684.2:g.35761257A>T | GRCh38 |
| NC_000022.10:g.36157304A>T , CM000684.1:g.36157304A>T | GRCh37 |
| NC_000022.9:g.34487250A>T | NCBI36 |
| NG_029628.1:g.272282T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695803.1:c.819T>A | ENSP00000512183.1:p.Asp273Glu | |
| ENST00000695804.1:c.699T>A | ENSP00000512184.1:p.Asp233Glu | |
| ENST00000695805.1:c.*230T>A | ENSP00000512185.1:n.*230T>A | |
| ENST00000695806.1:c.*206T>A | ENSP00000512186.1:n.*206T>A | |
| ENST00000695807.1:c.*149T>A | ENSP00000512187.1:n.*149T>A | |
| ENST00000695854.1:c.909T>A MANE Select | ENSP00000512219.1:p.Asp303Glu | |
| ENST00000438146.7:c.909T>A | ENSP00000413035.2:p.Asp303Glu | |
| ENST00000262829.11:c.642T>A | ENSP00000262829.7:p.Asp214Glu | |
| ENST00000359369.8:c.636T>A | ENSP00000352328.4:p.Asp212Glu | |
| ENST00000397303.6:c.639T>A | ENSP00000380470.2:p.Asp213Glu | |
| ENST00000405409.6:c.699T>A | ENSP00000384944.2:p.Asp233Glu | |
| ENST00000414461.6:c.696T>A | ENSP00000407855.2:p.Asp232Glu | |
| ENST00000416721.6:c.696T>A | ENSP00000405651.2:p.Asp232Glu | |
| ENST00000438146.6:c.909T>A | ENSP00000413035.2:p.Asp303Glu | |
| ENST00000449924.6:c.696T>A | ENSP00000391670.2:p.Asp232Glu | |
| ENST00000473487.6:c.636T>A | ENSP00000475142.1:p.Asp212Glu | |
| ENST00000495377.6:c.254T>A | ||
| NM_001031695.2:c.696T>A | NP_001026865.1:p.Asp232Glu | |
| NM_001082576.1:c.696T>A | NP_001076045.1:p.Asp232Glu | |
| NM_001082577.1:c.696T>A | NP_001076046.1:p.Asp232Glu | |
| NM_001082578.1:c.909T>A | NP_001076047.1:p.Asp303Glu | |
| NM_001082579.1:c.906T>A | NP_001076048.1:p.Asp302Glu | |
| NM_014309.2:c.699T>A | NP_055124.1:p.Asp233Glu | |
| XM_005261428.2:c.909T>A | XP_005261485.1:p.Asp303Glu | |
| XM_005261429.2:c.906T>A | XP_005261486.1:p.Asp302Glu | |
| XM_005261430.2:c.909T>A | XP_005261487.1:p.Asp303Glu | |
| XM_005261431.2:c.909T>A | XP_005261488.1:p.Asp303Glu | |
| XM_005261432.2:c.906T>A | XP_005261489.1:p.Asp302Glu | |
| XM_005261433.2:c.909T>A | XP_005261490.1:p.Asp303Glu | |
| XM_005261435.1:c.696T>A | XP_005261492.1:p.Asp232Glu | |
| XM_005261437.1:c.699T>A | XP_005261494.1:p.Asp233Glu | |
| XM_006724185.2:c.909T>A | XP_006724248.1:p.Asp303Glu | |
| XM_006724186.2:c.906T>A | XP_006724249.1:p.Asp302Glu | |
| XM_006724187.2:c.909T>A | XP_006724250.1:p.Asp303Glu | |
| XM_006724188.2:c.909T>A | XP_006724251.1:p.Asp303Glu | |
| XM_006724189.2:c.765T>A | XP_006724252.1:p.Asp255Glu | |
| XM_006724190.1:c.762T>A | XP_006724253.1:p.Asp254Glu | |
| XM_006724191.1:c.699T>A | XP_006724254.1:p.Asp233Glu | |
| XM_006724192.2:c.687T>A | XP_006724255.1:p.Asp229Glu | |
| XM_006724193.2:c.909T>A | XP_006724256.1:p.Asp303Glu | |
| XM_006724194.1:c.636T>A | XP_006724257.1:p.Asp212Glu | |
| XM_011530036.1:c.735T>A | XP_011528338.1:p.Asp245Glu | |
| NM_001031695.3:c.696T>A | NP_001026865.1:p.Asp232Glu | |
| NM_001082576.2:c.696T>A | NP_001076045.1:p.Asp232Glu | |
| NM_001082577.2:c.696T>A | NP_001076046.1:p.Asp232Glu | |
| NM_001082578.2:c.909T>A | NP_001076047.1:p.Asp303Glu | |
| NM_001082579.2:c.906T>A | NP_001076048.1:p.Asp302Glu | |
| NM_001349982.1:c.762T>A | NP_001336911.1:p.Asp254Glu | |
| NM_001349983.1:c.696T>A | NP_001336912.1:p.Asp232Glu | |
| NM_001349989.1:c.762T>A | NP_001336918.1:p.Asp254Glu | |
| NM_001349990.1:c.762T>A | NP_001336919.1:p.Asp254Glu | |
| NM_001349991.1:c.762T>A | NP_001336920.1:p.Asp254Glu | |
| NM_001349992.1:c.762T>A | NP_001336921.1:p.Asp254Glu | |
| NM_001349994.1:c.762T>A | NP_001336923.1:p.Asp254Glu | |
| NM_001349995.1:c.669T>A | NP_001336924.1:p.Asp223Glu | |
| NM_001349996.1:c.762T>A | NP_001336925.1:p.Asp254Glu | |
| NM_001349997.1:c.699T>A | NP_001336926.1:p.Asp233Glu | |
| NM_001349998.1:c.696T>A | NP_001336927.1:p.Asp232Glu | |
| NM_001349999.1:c.909T>A | NP_001336928.1:p.Asp303Glu | |
| NM_014309.3:c.699T>A | NP_055124.1:p.Asp233Glu | |
| XM_006724189.3:c.765T>A | XP_006724252.1:p.Asp255Glu | |
| XM_006724193.3:c.909T>A | XP_006724256.1:p.Asp303Glu | |
| XM_006724194.2:c.636T>A | XP_006724257.1:p.Asp212Glu | |
| XM_017028686.1:c.735T>A | XP_016884175.1:p.Asp245Glu | |
| XM_017028687.2:c.831T>A | XP_016884176.1:p.Asp277Glu | |
| XM_017028688.1:c.906T>A | XP_016884177.1:p.Asp302Glu | |
| XM_017028690.1:c.717T>A | XP_016884179.1:p.Asp239Glu | |
| XM_017028691.1:c.714T>A | XP_016884180.1:p.Asp238Glu | |
| XM_017028693.1:c.699T>A | XP_016884182.1:p.Asp233Glu | |
| XM_017028696.1:c.699T>A | XP_016884185.1:p.Asp233Glu | |
| XM_017028697.1:c.636T>A | XP_016884186.1:p.Asp212Glu | |
| XM_017028698.1:c.696T>A | XP_016884187.1:p.Asp232Glu | |
| XM_024452188.1:c.828T>A | XP_024307956.1:p.Asp276Glu | |
| XM_024452189.1:c.639T>A | XP_024307957.1:p.Asp213Glu | |
| XM_024452190.1:c.639T>A | XP_024307958.1:p.Asp213Glu | |
| XM_024452191.1:c.684T>A | XP_024307959.1:p.Asp228Glu | |
| XM_024452192.1:c.636T>A | XP_024307960.1:p.Asp212Glu | |
| NM_001082578.3:c.909T>A | NP_001076047.1:p.Asp303Glu | |
| NM_001031695.4:c.696T>A | NP_001026865.1:p.Asp232Glu | |
| NM_001082576.3:c.696T>A | NP_001076045.1:p.Asp232Glu | |
| NM_001082577.3:c.696T>A | NP_001076046.1:p.Asp232Glu | |
| NM_001349982.2:c.762T>A | NP_001336911.1:p.Asp254Glu | |
| NM_001349983.2:c.696T>A | NP_001336912.1:p.Asp232Glu | |
| NM_001349989.2:c.762T>A | NP_001336918.1:p.Asp254Glu | |
| NM_001349990.2:c.762T>A | NP_001336919.1:p.Asp254Glu | |
| NM_001349991.2:c.762T>A | NP_001336920.1:p.Asp254Glu | |
| NM_001349992.2:c.762T>A | NP_001336921.1:p.Asp254Glu | |
| NM_001349994.2:c.762T>A | NP_001336923.1:p.Asp254Glu | |
| NM_001349995.2:c.669T>A | NP_001336924.1:p.Asp223Glu | |
| NM_001349996.2:c.762T>A | NP_001336925.1:p.Asp254Glu | |
| NM_001349997.2:c.699T>A | NP_001336926.1:p.Asp233Glu | |
| NM_001349998.2:c.696T>A | NP_001336927.1:p.Asp232Glu | |
| NM_014309.4:c.699T>A | NP_055124.1:p.Asp233Glu | |
| NM_001082578.4:c.909T>A | NP_001076047.2:p.Asp303Glu | |
| NM_001082579.3:c.906T>A | NP_001076048.2:p.Asp302Glu | |
| NM_001349999.2:c.909T>A MANE Select | NP_001336928.2:p.Asp303Glu | |
| NM_001394108.1:c.903T>A | NP_001381037.1:p.Asp301Glu | |
| NM_001394109.1:c.813T>A | NP_001381038.1:p.Asp271Glu | |
| NM_001394110.1:c.813T>A | NP_001381039.1:p.Asp271Glu | |
| NM_001394111.1:c.813T>A | NP_001381040.1:p.Asp271Glu | |
| NM_001394112.1:c.906T>A | NP_001381041.1:p.Asp302Glu | |
| NM_001394113.1:c.906T>A | NP_001381042.1:p.Asp302Glu | |
| NM_001394114.1:c.909T>A | NP_001381043.1:p.Asp303Glu | |
| NM_001394115.1:c.906T>A | NP_001381044.1:p.Asp302Glu |