WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95045628C= , CM000670.2:g.95045628C= | GRCh38 |
| NC_000008.10:g.96057856C= , CM000670.1:g.96057856C= | GRCh37 |
| NC_000008.9:g.96127032C= | NCBI36 |
| NG_016647.1:g.25636C= | |
| NG_016647.2:g.155358C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519804.2:c.*355C= | ENSP00000430230.2:n.*355C= | |
| ENST00000697355.1:c.*331C= | ENSP00000513277.1:n.*331C= | |
| ENST00000697364.1:c.285C= | ENSP00000513278.1:p.Tyr95= | |
| ENST00000396124.9:c.561C= MANE Select | ENSP00000379430.4:p.Tyr187= | |
| ENST00000396111.6:c.285C= | ENSP00000379417.1:p.Tyr95= | |
| ENST00000396113.5:c.285C= | ENSP00000379419.1:p.Tyr95= | |
| ENST00000396124.8:c.561C= | ENSP00000379430.4:p.Tyr187= | |
| ENST00000454358.6:c.506C= | ||
| ENST00000517976.5:c.746C= | ENSP00000430099.1:n.746C= | |
| ENST00000518258.5:c.*536C= | ENSP00000428788.1:n.*536C= | |
| ENST00000518608.5:c.521C= | ||
| ENST00000519136.5:c.228C= | ENSP00000429585.1:p.Tyr76= | |
| ENST00000519804.1:c.228C= | ENSP00000430230.1:p.Tyr76= | |
| ENST00000520632.5:c.784C= | ENSP00000428666.1:n.784C= | |
| ENST00000520757.1:c.626C= | ||
| ENST00000523337.5:c.*314C= | ENSP00000429038.1:n.*314C= | |
| ENST00000523378.5:c.285C= | ENSP00000428034.1:p.Tyr95= | |
| NM_152416.3:c.561C= | NP_689629.2:p.Tyr187= | |
| XM_005250789.1:c.285C= | XP_005250846.1:p.Tyr95= | |
| XM_005250790.1:c.228C= | XP_005250847.1:p.Tyr76= | |
| XM_005250791.1:c.105C= | XP_005250848.1:p.Tyr35= | |
| XM_005250792.1:c.105C= | XP_005250849.1:p.Tyr35= | |
| XM_005250793.1:c.105C= | XP_005250850.1:p.Tyr35= | |
| XM_011516833.1:c.405C= | XP_011515135.1:p.Tyr135= | |
| XM_011516834.1:c.405C= | XP_011515136.1:p.Tyr135= | |
| XM_011516835.1:c.405C= | XP_011515137.1:p.Tyr135= | |
| XM_011516836.1:c.405C= | XP_011515138.1:p.Tyr135= | |
| XM_011516837.1:c.405C= | XP_011515139.1:p.Tyr135= | |
| XM_011516838.1:c.405C= | XP_011515140.1:p.Tyr135= | |
| XM_011516839.1:c.405C= | XP_011515141.1:p.Tyr135= | |
| XM_011516840.1:c.405C= | XP_011515142.1:p.Tyr135= | |
| XM_011516841.1:c.405C= | XP_011515143.1:p.Tyr135= | |
| XM_011516842.1:c.405C= | XP_011515144.1:p.Tyr135= | |
| XM_011516843.1:c.285C= | XP_011515145.1:p.Tyr95= | |
| XM_011516844.1:c.228C= | XP_011515146.1:p.Tyr76= | |
| NM_001330582.1:c.285C= | NP_001317511.1:p.Tyr95= | |
| NM_001354514.1:c.285C= | NP_001341443.1:p.Tyr95= | |
| NM_001354515.1:c.285C= | NP_001341444.1:p.Tyr95= | |
| NM_001354516.1:c.405C= | NP_001341445.1:p.Tyr135= | |
| NM_001354517.1:c.228C= | NP_001341446.1:p.Tyr76= | |
| NM_001354518.1:c.228C= | NP_001341447.1:p.Tyr76= | |
| NM_001354519.1:c.228C= | NP_001341448.1:p.Tyr76= | |
| NM_001354521.1:c.285C= | NP_001341450.1:p.Tyr95= | |
| NM_001354522.1:c.105C= | NP_001341451.1:p.Tyr35= | |
| NM_001354524.1:c.105C= | NP_001341453.1:p.Tyr35= | |
| NM_001354525.1:c.105C= | NP_001341454.1:p.Tyr35= | |
| NM_001354527.1:c.105C= | NP_001341456.1:p.Tyr35= | |
| NM_001354528.1:c.105C= | NP_001341457.1:p.Tyr35= | |
| NM_001354529.1:c.105C= | NP_001341458.1:p.Tyr35= | |
| NM_001354530.1:c.105C= | NP_001341459.1:p.Tyr35= | |
| NM_001354531.1:c.105C= | NP_001341460.1:p.Tyr35= | |
| NM_001354532.1:c.105C= | NP_001341461.1:p.Tyr35= | |
| NM_001354533.1:c.105C= | NP_001341462.1:p.Tyr35= | |
| NM_001354534.1:c.228C= | NP_001341463.1:p.Tyr76= | |
| NR_148910.1:n.714C= | ||
| NR_148911.1:n.714C= | ||
| NR_148912.1:n.718C= | ||
| NR_148913.1:n.595C= | ||
| NR_148914.1:n.792C= | ||
| NR_148915.1:n.719C= | ||
| XM_005250792.2:c.105C= | XP_005250849.1:p.Tyr35= | |
| XM_005250793.3:c.105C= | XP_005250850.1:p.Tyr35= | |
| XM_011516833.2:c.405C= | XP_011515135.1:p.Tyr135= | |
| XM_011516834.2:c.405C= | XP_011515136.1:p.Tyr135= | |
| XM_011516835.2:c.405C= | XP_011515137.1:p.Tyr135= | |
| XM_011516836.2:c.405C= | XP_011515138.1:p.Tyr135= | |
| XM_011516837.2:c.405C= | XP_011515139.1:p.Tyr135= | |
| XM_011516838.2:c.405C= | XP_011515140.1:p.Tyr135= | |
| XM_011516839.2:c.405C= | XP_011515141.1:p.Tyr135= | |
| XM_011516840.2:c.405C= | XP_011515142.1:p.Tyr135= | |
| XM_011516841.2:c.405C= | XP_011515143.1:p.Tyr135= | |
| XM_011516842.2:c.405C= | XP_011515144.1:p.Tyr135= | |
| XM_017013027.2:c.405C= | XP_016868516.1:p.Tyr135= | |
| XM_017013028.1:c.405C= | XP_016868517.1:p.Tyr135= | |
| XM_017013029.1:c.405C= | XP_016868518.1:p.Tyr135= | |
| XM_017013033.2:c.285C= | XP_016868522.1:p.Tyr95= | |
| XM_017013034.1:c.228C= | XP_016868523.1:p.Tyr76= | |
| XM_024447062.1:c.228C= | XP_024302830.1:p.Tyr76= | |
| NM_152416.4:c.561C= MANE Select | NP_689629.2:p.Tyr187= | |
| NR_148913.2:n.581C= | ||
| NR_148914.2:n.778C= | ||
| NM_001330582.2:c.285C= | NP_001317511.1:p.Tyr95= | |
| NM_001354514.2:c.285C= | NP_001341443.1:p.Tyr95= | |
| NM_001354515.2:c.285C= | NP_001341444.1:p.Tyr95= | |
| NM_001354516.2:c.405C= | NP_001341445.1:p.Tyr135= | |
| NM_001354517.2:c.228C= | NP_001341446.1:p.Tyr76= | |
| NM_001354518.2:c.228C= | NP_001341447.1:p.Tyr76= | |
| NM_001354519.2:c.228C= | NP_001341448.1:p.Tyr76= | |
| NM_001354521.2:c.285C= | NP_001341450.1:p.Tyr95= | |
| NM_001354522.2:c.105C= | NP_001341451.1:p.Tyr35= | |
| NM_001354524.2:c.105C= | NP_001341453.1:p.Tyr35= | |
| NM_001354525.2:c.105C= | NP_001341454.1:p.Tyr35= | |
| NM_001354527.2:c.105C= | NP_001341456.1:p.Tyr35= | |
| NM_001354528.2:c.105C= | NP_001341457.1:p.Tyr35= | |
| NM_001354529.2:c.105C= | NP_001341458.1:p.Tyr35= | |
| NM_001354530.2:c.105C= | NP_001341459.1:p.Tyr35= | |
| NM_001354531.2:c.105C= | NP_001341460.1:p.Tyr35= | |
| NM_001354532.2:c.105C= | NP_001341461.1:p.Tyr35= | |
| NM_001354533.2:c.105C= | NP_001341462.1:p.Tyr35= | |
| NM_001354534.2:c.228C= | NP_001341463.1:p.Tyr76= | |
| NR_148910.2:n.700C= | ||
| NR_148911.2:n.700C= | ||
| NR_148912.2:n.704C= | ||
| NR_148915.2:n.705C= |