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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.34292387A= | CA2361138429 | AHCY | c.416T= (p.Ile139=) n.579T= n.463T= c.332T= (p.Ile111=) c.422T= (p.Ile141=) c.38T= (p.Ile13=) | |
| 20 | g.34292387A>C | CA408658927 | AHCY | c.416T>G (p.Ile139Ser) n.579T>G n.463T>G c.332T>G (p.Ile111Ser) c.422T>G (p.Ile141Ser) c.38T>G (p.Ile13Ser) | |
| 20 | g.34292387A>G | CA9821017 | AHCY | c.416T>C (p.Ile139Thr) n.579T>C n.463T>C c.332T>C (p.Ile111Thr) c.422T>C (p.Ile141Thr) c.38T>C (p.Ile13Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34292387A>T | CA408658931 | AHCY | c.416T>A (p.Ile139Asn) n.579T>A n.463T>A c.332T>A (p.Ile111Asn) c.422T>A (p.Ile141Asn) c.38T>A (p.Ile13Asn) | |
| 20 | g.34292388T>A | CA408658941 | AHCY | c.415A>T (p.Ile139Phe) n.578A>T n.462A>T c.331A>T (p.Ile111Phe) c.421A>T (p.Ile141Phe) c.37A>T (p.Ile13Phe) | |
| 20 | g.34292388T>C | CA408658936 | AHCY | c.415A>G (p.Ile139Val) n.578A>G n.462A>G c.331A>G (p.Ile111Val) c.421A>G (p.Ile141Val) c.37A>G (p.Ile13Val) | gnomAD v4 |
| 20 | g.34292388T>G | CA408658934 | AHCY | c.415A>C (p.Ile139Leu) n.578A>C n.462A>C c.331A>C (p.Ile111Leu) c.421A>C (p.Ile141Leu) c.37A>C (p.Ile13Leu) | gnomAD v4 |
| 20 | g.34292389G>A | CA510273782 | AHCY | c.414C>T (p.Leu138=) n.577C>T n.461C>T c.330C>T (p.Leu110=) c.420C>T (p.Leu140=) c.36C>T (p.Leu12=) | gnomAD v4 |
| 20 | g.34292389G>C | CA510273781 | AHCY | c.414C>G (p.Leu138=) n.577C>G n.461C>G c.330C>G (p.Leu110=) c.420C>G (p.Leu140=) c.36C>G (p.Leu12=) | |
| 20 | g.34292389G>T | CA510273780 | AHCY | c.414C>A (p.Leu138=) n.577C>A n.461C>A c.330C>A (p.Leu110=) c.420C>A (p.Leu140=) c.36C>A (p.Leu12=) | |
| 20 | g.34292390A>C | CA408658945 | AHCY | c.413T>G (p.Leu138Arg) n.576T>G n.460T>G c.329T>G (p.Leu110Arg) c.419T>G (p.Leu140Arg) c.35T>G (p.Leu12Arg) | |
| 20 | g.34292390A>G | CA408658947 | AHCY | c.413T>C (p.Leu138Pro) n.576T>C n.460T>C c.329T>C (p.Leu110Pro) c.419T>C (p.Leu140Pro) c.35T>C (p.Leu12Pro) | |
| 20 | g.34292390A>T | CA408658949 | AHCY | c.413T>A (p.Leu138His) n.576T>A n.460T>A c.329T>A (p.Leu110His) c.419T>A (p.Leu140His) c.35T>A (p.Leu12His) | |
| 20 | g.34292391G>A | CA408658952 | AHCY | c.412C>T (p.Leu138Phe) n.575C>T n.459C>T c.328C>T (p.Leu110Phe) c.418C>T (p.Leu140Phe) c.34C>T (p.Leu12Phe) | |
| 20 | g.34292391G>C | CA408658954 | AHCY | c.412C>G (p.Leu138Val) n.575C>G n.459C>G c.328C>G (p.Leu110Val) c.418C>G (p.Leu140Val) c.34C>G (p.Leu12Val) | |
| 20 | g.34292391G>T | CA408658956 | AHCY | c.412C>A (p.Leu138Ile) n.575C>A n.459C>A c.328C>A (p.Leu110Ile) c.418C>A (p.Leu140Ile) c.34C>A (p.Leu12Ile) | |
| 20 | g.34292392G>A | CA510273783 | AHCY | c.411C>T (p.Asn137=) n.574C>T n.458C>T c.327C>T (p.Asn109=) c.417C>T (p.Asn139=) c.33C>T (p.Asn11=) | |
| 20 | g.34292392G>C | CA408658959 | AHCY | c.411C>G (p.Asn137Lys) n.574C>G n.458C>G c.327C>G (p.Asn109Lys) c.417C>G (p.Asn139Lys) c.33C>G (p.Asn11Lys) | |
| 20 | g.34292392G>T | CA408658961 | AHCY | c.411C>A (p.Asn137Lys) n.574C>A n.458C>A c.327C>A (p.Asn109Lys) c.417C>A (p.Asn139Lys) c.33C>A (p.Asn11Lys) | gnomAD v4 |
| 20 | g.34292393T>A | CA408658965 | AHCY | c.410A>T (p.Asn137Ile) n.573A>T n.457A>T c.326A>T (p.Asn109Ile) c.416A>T (p.Asn139Ile) c.32A>T (p.Asn11Ile) | |
| 20 | g.34292393T>C | CA408658967 | AHCY | c.410A>G (p.Asn137Ser) n.573A>G n.457A>G c.326A>G (p.Asn109Ser) c.416A>G (p.Asn139Ser) c.32A>G (p.Asn11Ser) | |
| 20 | g.34292393T>G | CA408658970 | AHCY | c.410A>C (p.Asn137Thr) n.573A>C n.457A>C c.326A>C (p.Asn109Thr) c.416A>C (p.Asn139Thr) c.32A>C (p.Asn11Thr) | |
| 20 | g.34292394T>A | CA408658973 | AHCY | c.409A>T (p.Asn137Tyr) n.572A>T n.456A>T c.325A>T (p.Asn109Tyr) c.415A>T (p.Asn139Tyr) c.31A>T (p.Asn11Tyr) | |
| 20 | g.34292394T>C | CA408658975 | AHCY | c.409A>G (p.Asn137Asp) n.572A>G n.456A>G c.325A>G (p.Asn109Asp) c.415A>G (p.Asn139Asp) c.31A>G (p.Asn11Asp) | |
| 20 | g.34292394T>G | CA408658977 | AHCY | c.409A>C (p.Asn137His) n.572A>C n.456A>C c.325A>C (p.Asn109His) c.415A>C (p.Asn139His) c.31A>C (p.Asn11His) | |
| 20 | g.34292395G>A | CA510273784 | AHCY | c.408C>T (p.Thr136=) n.571C>T n.455C>T c.324C>T (p.Thr108=) c.414C>T (p.Thr138=) c.30C>T (p.Thr10=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.34292395G>C | CA510273786 | AHCY | c.408C>G (p.Thr136=) n.571C>G n.455C>G c.324C>G (p.Thr108=) c.414C>G (p.Thr138=) c.30C>G (p.Thr10=) | |
| 20 | g.34292395G= | CA2361138430 | AHCY | c.408C= (p.Thr136=) n.571C= n.455C= c.324C= (p.Thr108=) c.414C= (p.Thr138=) c.30C= (p.Thr10=) | |
| 20 | g.34292395G>T | CA510273785 | AHCY | c.408C>A (p.Thr136=) n.571C>A n.455C>A c.324C>A (p.Thr108=) c.414C>A (p.Thr138=) c.30C>A (p.Thr10=) | |
| 20 | g.34292396G>A | CA408658982 | AHCY | c.407C>T (p.Thr136Ile) n.570C>T n.454C>T c.323C>T (p.Thr108Ile) c.413C>T (p.Thr138Ile) c.29C>T (p.Thr10Ile) | COSMIC |
| 20 | g.34292396G>C | CA408658984 | AHCY | c.407C>G (p.Thr136Ser) n.570C>G n.454C>G c.323C>G (p.Thr108Ser) c.413C>G (p.Thr138Ser) c.29C>G (p.Thr10Ser) | |
| 20 | g.34292396G>T | CA408658980 | AHCY | c.407C>A (p.Thr136Asn) n.570C>A n.454C>A c.323C>A (p.Thr108Asn) c.413C>A (p.Thr138Asn) c.29C>A (p.Thr10Asn) | |
| 20 | g.34292397T>A | CA408658987 | AHCY | c.406A>T (p.Thr136Ser) n.569A>T n.453A>T c.322A>T (p.Thr108Ser) c.412A>T (p.Thr138Ser) c.28A>T (p.Thr10Ser) | |
| 20 | g.34292397T>C | CA408658993 | AHCY | c.406A>G (p.Thr136Ala) n.569A>G n.453A>G c.322A>G (p.Thr108Ala) c.412A>G (p.Thr138Ala) c.28A>G (p.Thr10Ala) | |
| 20 | g.34292397T>G | CA408658990 | AHCY | c.406A>C (p.Thr136Pro) n.569A>C n.453A>C c.322A>C (p.Thr108Pro) c.412A>C (p.Thr138Pro) c.28A>C (p.Thr10Pro) | dbSNP |
| 20 | g.34292397T= | CA2361138431 | AHCY | c.406A= (p.Thr136=) n.569A= n.453A= c.322A= (p.Thr108=) c.412A= (p.Thr138=) c.28A= (p.Thr10=) | |
| 20 | g.34292398G>A | CA9821018 | AHCY | c.405C>T (p.Leu135=) n.568C>T n.452C>T c.321C>T (p.Leu107=) c.411C>T (p.Leu137=) c.27C>T (p.Leu9=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34292398G>C | CA510273788 | AHCY | c.405C>G (p.Leu135=) n.568C>G n.452C>G c.321C>G (p.Leu107=) c.411C>G (p.Leu137=) c.27C>G (p.Leu9=) | |
| 20 | g.34292398G= | CA2361138432 | AHCY | c.405C= (p.Leu135=) n.568C= n.452C= c.321C= (p.Leu107=) c.411C= (p.Leu137=) c.27C= (p.Leu9=) | |
| 20 | g.34292398G>T | CA510273787 | AHCY | c.405C>A (p.Leu135=) n.568C>A n.452C>A c.321C>A (p.Leu107=) c.411C>A (p.Leu137=) c.27C>A (p.Leu9=) | |
| 20 | g.34292399A>C | CA408659000 | AHCY | c.404T>G (p.Leu135Arg) n.567T>G n.451T>G c.320T>G (p.Leu107Arg) c.410T>G (p.Leu137Arg) c.26T>G (p.Leu9Arg) | |
| 20 | g.34292399A>G | CA408659002 | AHCY | c.404T>C (p.Leu135Pro) n.567T>C n.451T>C c.320T>C (p.Leu107Pro) c.410T>C (p.Leu137Pro) c.26T>C (p.Leu9Pro) | |
| 20 | g.34292399A>T | CA408659004 | AHCY | c.404T>A (p.Leu135His) n.567T>A n.451T>A c.320T>A (p.Leu107His) c.410T>A (p.Leu137His) c.26T>A (p.Leu9His) | |
| 20 | g.34292400G>A | CA408659009 | AHCY | c.403C>T (p.Leu135Phe) n.566C>T n.450C>T c.319C>T (p.Leu107Phe) c.409C>T (p.Leu137Phe) c.25C>T (p.Leu9Phe) | gnomAD v4 |
| 20 | g.34292400G>C | CA408659011 | AHCY | c.403C>G (p.Leu135Val) n.566C>G n.450C>G c.319C>G (p.Leu107Val) c.409C>G (p.Leu137Val) c.25C>G (p.Leu9Val) | |
| 20 | g.34292400G>T | CA313352038 | AHCY | c.403C>A (p.Leu135Ile) n.566C>A n.450C>A c.319C>A (p.Leu107Ile) c.409C>A (p.Leu137Ile) c.25C>A (p.Leu9Ile) | |
| 20 | g.34292401G>A | CA510273789 | AHCY | c.402C>T (p.Asp134=) n.565C>T n.449C>T c.318C>T (p.Asp106=) c.408C>T (p.Asp136=) c.24C>T (p.Asp8=) | |
| 20 | g.34292401G>C | CA408659016 | AHCY | c.402C>G (p.Asp134Glu) n.565C>G n.449C>G c.318C>G (p.Asp106Glu) c.408C>G (p.Asp136Glu) c.24C>G (p.Asp8Glu) | |
| 20 | g.34292401G>T | CA408659019 | AHCY | c.402C>A (p.Asp134Glu) n.565C>A n.449C>A c.318C>A (p.Asp106Glu) c.408C>A (p.Asp136Glu) c.24C>A (p.Asp8Glu) | |
| 20 | g.34292402T>A | CA408659022 | AHCY | c.401A>T (p.Asp134Val) n.564A>T n.448A>T c.317A>T (p.Asp106Val) c.407A>T (p.Asp136Val) c.23A>T (p.Asp8Val) |