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_000015.10:g.42410451C= , CM000677.2:g.42410451C= | GRCh38 |
| NC_000015.9:g.42702649C= , CM000677.1:g.42702649C= | GRCh37 |
| NC_000015.8:g.40489941C= | NCBI36 |
| NG_008660.1:g.67349C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.144C= | ENSP00000336840.4:p.Asn48= | |
| ENST00000349748.8:c.1863C= | ENSP00000183936.4:p.Asn621= | |
| ENST00000357568.8:c.2121C= | ENSP00000350181.3:p.Asn707= | |
| ENST00000397163.8:c.2139C= MANE Select | ENSP00000380349.3:p.Asn713= | |
| ENST00000397204.9:c.144C= | ENSP00000380387.4:p.Asn48= | |
| ENST00000466222.7:n.404C= | ||
| ENST00000466369.5:n.2630C= | ||
| ENST00000495723.1:n.3010C= | ||
| ENST00000549793.5:n.2352C= | ||
| ENST00000562199.2:c.143C= | ENSP00000501034.1:p.Thr48= | |
| ENST00000568153.2:c.5C= | ||
| ENST00000569136.6:c.144C= | ENSP00000455254.1:p.Asn48= | |
| ENST00000638141.2:n.1878C= | ||
| ENST00000673646.1:c.703C= | ENSP00000501007.1:n.703C= | |
| ENST00000673684.1:n.121C= | ||
| ENST00000673687.1:n.648C= | ||
| ENST00000673692.1:c.144C= | ENSP00000501138.1:p.Asn48= | |
| ENST00000673705.1:c.511-137C= | ENSP00000501021.1:n.511-137C= | |
| ENST00000673743.1:c.42C= | ENSP00000500989.1:p.Asn14= | |
| ENST00000673750.1:c.144C= | ENSP00000501173.1:p.Asn48= | |
| ENST00000673771.1:c.144C= | ENSP00000501023.1:p.Asn48= | |
| ENST00000673774.1:n.1272C= | ||
| ENST00000673839.1:c.144C= | ENSP00000501188.1:p.Asn48= | |
| ENST00000673851.1:c.144C= | ENSP00000501142.1:p.Asn48= | |
| ENST00000673854.1:n.5561C= | ||
| ENST00000673886.1:c.144C= | ENSP00000501155.1:p.Asn48= | |
| ENST00000673890.1:c.144C= | ENSP00000501293.1:p.Asn48= | |
| ENST00000673893.1:c.342C= | ENSP00000500987.1:n.342C= | |
| ENST00000673928.1:c.144C= | ENSP00000501099.1:p.Asn48= | |
| ENST00000673936.1:c.144C= | ENSP00000501189.1:p.Asn48= | |
| ENST00000673939.1:c.144C= | ENSP00000501129.1:p.Asn48= | |
| ENST00000673950.1:n.413C= | ||
| ENST00000673978.1:c.282C= | ENSP00000500976.1:p.Asn94= | |
| ENST00000673987.1:c.144C= | ENSP00000501231.1:p.Asn48= | |
| ENST00000674011.1:c.144C= | ENSP00000501171.1:p.Asn48= | |
| ENST00000674018.1:c.144C= | ENSP00000501271.1:p.Asn48= | |
| ENST00000674027.1:n.199C= | ||
| ENST00000674041.1:c.144C= | ENSP00000500956.1:p.Asn48= | |
| ENST00000674052.1:c.363C= | ENSP00000501057.1:p.Asn121= | |
| ENST00000674093.1:c.144C= | ENSP00000501303.1:p.Asn48= | |
| ENST00000674119.1:c.144C= | ENSP00000501217.1:p.Asn48= | |
| ENST00000674135.1:c.321C= | ENSP00000501178.1:p.Asn107= | |
| ENST00000674139.1:c.144C= | ENSP00000501054.1:p.Asn48= | |
| ENST00000674146.1:c.144C= | ENSP00000501175.1:p.Asn48= | |
| ENST00000674149.1:c.144C= | ENSP00000501112.1:p.Asn48= | |
| ENST00000318023.11:c.1995C= | ENSP00000326281.8:p.Asn665= | |
| ENST00000337571.8:c.144C= | ENSP00000336840.4:p.Asn48= | |
| ENST00000349748.7:c.1863C= | ENSP00000183936.4:p.Asn621= | |
| ENST00000356316.7:c.144C= | ENSP00000348667.4:p.Asn48= | |
| ENST00000357568.7:c.2121C= | ENSP00000350181.3:p.Asn707= | |
| ENST00000397163.7:c.2139C= | ENSP00000380349.3:p.Asn713= | |
| ENST00000397200.8:c.603C= | ENSP00000380384.4:p.Asn201= | |
| ENST00000397204.8:c.144C= | ENSP00000380387.4:p.Asn48= | |
| ENST00000466222.6:n.1062C= | ||
| ENST00000561817.5:c.144C= | ENSP00000456575.1:p.Asn48= | |
| ENST00000562199.1:n.143C= | ||
| ENST00000564503.5:c.236C= | ||
| ENST00000565274.5:c.371C= | ENSP00000457759.1:n.371C= | |
| ENST00000565559.5:c.321C= | ENSP00000457878.1:p.Asn107= | |
| ENST00000569136.5:c.144C= | ENSP00000455254.1:p.Asn48= | |
| ENST00000569827.5:c.471C= | ENSP00000454379.1:p.Asn157= | |
| NM_000070.2:c.2139C= | NP_000061.1:p.Asn713= | |
| NM_024344.1:c.2121C= | NP_077320.1:p.Asn707= | |
| NM_173087.1:c.1863C= | NP_775110.1:p.Asn621= | |
| NM_173088.1:c.603C= | NP_775111.1:p.Asn201= | |
| NM_173089.1:c.144C= | NP_775112.1:p.Asn48= | |
| NM_173090.1:c.144C= | NP_775113.1:p.Asn48= | |
| NM_000070.3:c.2139C= MANE Select | NP_000061.1:p.Asn713= | |
| NM_024344.2:c.2121C= | NP_077320.1:p.Asn707= | |
| NM_173087.2:c.1863C= | NP_775110.1:p.Asn621= | |
| NM_173088.2:c.603C= | NP_775111.1:p.Asn201= | |
| NM_173089.2:c.144C= | NP_775112.1:p.Asn48= | |
| NM_173090.2:c.144C= | NP_775113.1:p.Asn48= |