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 |
|---|---|---|---|---|---|
| 9 | g.133255797G>A | CA5305680 | ABO | n.963C>T n.54-4645C>T c.28+19365C>T (n.28+19365C>T) n.945C>T c.931C>T (p.Arg311Cys) c.934C>T (p.Arg312Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133255797G>C | CA375684050 | ABO | n.963C>G n.54-4645C>G c.28+19365C>G (n.28+19365C>G) n.945C>G c.931C>G (p.Arg311Gly) c.934C>G (p.Arg312Gly) | |
| 9 | g.133255797G= | CA1882579529 | ABO | n.963C= n.54-4645C= c.28+19365C= (n.28+19365C=) n.945C= c.931C= (p.Arg311=) c.934C= (p.Arg312=) | |
| 9 | g.133255797G>T | CA375684052 | ABO | n.963C>A n.54-4645C>A c.28+19365C>A (n.28+19365C>A) n.945C>A c.931C>A (p.Arg311Ser) c.934C>A (p.Arg312Ser) | |
| 9 | g.133255798C>A | CA467852953 | ABO | n.962G>T n.54-4646G>T c.28+19364G>T (n.28+19364G>T) n.944G>T c.930G>T (p.Leu310=) c.933G>T (p.Leu311=) | dbSNP |
| 9 | g.133255798C= | CA1882579533 | ABO | n.962G= n.54-4646G= c.28+19364G= (n.28+19364G=) n.944G= c.930G= (p.Leu310=) c.933G= (p.Leu311=) | |
| 9 | g.133255798C>G | CA5305681 | ABO | n.962G>C n.54-4646G>C c.28+19364G>C (n.28+19364G>C) n.944G>C c.930G>C (p.Leu310=) c.933G>C (p.Leu311=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133255798C>T | CA467852954 | ABO | n.962G>A n.54-4646G>A c.28+19364G>A (n.28+19364G>A) n.944G>A c.930G>A (p.Leu310=) c.933G>A (p.Leu311=) | dbSNP gnomAD v4 |
| 9 | g.133255799A= | CA1882579535 | ABO | n.961T= n.54-4647T= c.28+19363T= (n.28+19363T=) n.943T= c.929T= (p.Leu310=) c.932T= (p.Leu311=) | |
| 9 | g.133255799A>C | CA375684064 | ABO | n.961T>G n.54-4647T>G c.28+19363T>G (n.28+19363T>G) n.943T>G c.929T>G (p.Leu310Arg) c.932T>G (p.Leu311Arg) | dbSNP |
| 9 | g.133255799A>G | CA375684060 | ABO | n.961T>C n.54-4647T>C c.28+19363T>C (n.28+19363T>C) n.943T>C c.929T>C (p.Leu310Pro) c.932T>C (p.Leu311Pro) | |
| 9 | g.133255799A>T | CA375684063 | ABO | n.961T>A n.54-4647T>A c.28+19363T>A (n.28+19363T>A) n.943T>A c.929T>A (p.Leu310Gln) c.932T>A (p.Leu311Gln) | |
| 9 | g.133255800G>A | CA467852955 | ABO | n.960C>T n.54-4648C>T c.28+19362C>T (n.28+19362C>T) n.942C>T c.928C>T (p.Leu310=) c.931C>T (p.Leu311=) | |
| 9 | g.133255800G>C | CA375684067 | ABO | n.960C>G n.54-4648C>G c.28+19362C>G (n.28+19362C>G) n.942C>G c.928C>G (p.Leu310Val) c.931C>G (p.Leu311Val) | |
| 9 | g.133255800G>T | CA375684073 | ABO | n.960C>A n.54-4648C>A c.28+19362C>A (n.28+19362C>A) n.942C>A c.928C>A (p.Leu310Met) c.931C>A (p.Leu311Met) | |
| 9 | g.133255801C>A | CA467852956 | ABO | n.959G>T n.54-4649G>T c.28+19361G>T (n.28+19361G>T) n.941G>T c.927G>T (p.Leu309=) c.930G>T (p.Leu310=) | |
| 9 | g.133255801C= | CA1882579539 | ABO | n.959G= n.54-4649G= c.28+19361G= (n.28+19361G=) n.941G= c.927G= (p.Leu309=) c.930G= (p.Leu310=) | |
| 9 | g.133255801C>G | CA467852957 | ABO | n.959G>C n.54-4649G>C c.28+19361G>C (n.28+19361G>C) n.941G>C c.927G>C (p.Leu309=) c.930G>C (p.Leu310=) | |
| 9 | g.133255801C>T | CA5305682 | ABO | n.959G>A n.54-4649G>A c.28+19361G>A (n.28+19361G>A) n.941G>A c.927G>A (p.Leu309=) c.930G>A (p.Leu310=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.[133255801C>T;133255928C>G;133255935G>T;133256028C>T;133256074G>A;133256205G>C;133257486T>C] | CA2580573353 | ABO | n.[326A>G;555C>G;686C>T;732G>A;825C>A;832G>C;959G>A] n.[54-6334A>G;54-5053C>G;54-4922C>T;54-4876G>A;54-4783C>A;54-4776G>C;54-4649G>A] c.[28+17676A>G;28+18957C>G;28+19088C>T;28+19134G>A;28+19227C>A;28+19234G>C;28+19361G>A] (n.[28+17676A>G;28+18957C>G;28+19088C>T;28+19134G>A;28+19227C>A;28+19234G>C;28+19361G>A]) n.[308A>G;537C>G;668C>T;714G>A;807C>A;814G>C;941G>A] c.[294A>G;523C>G;654C>T;700G>A;793C>A;800G>C;927G>A] (p.[Thr98=;Arg175Gly;His218=;Gly234Ser;Leu265Met;Gly267Ala;Leu309=]) c.[297A>G;526C>G;657C>T;703G>A;796C>A;803G>C;930G>A] (p.[Thr99=;Arg176Gly;His219=;Gly235Ser;Leu266Met;Gly268Ala;Leu310=]) | ClinVar |
| 9 | g.[133255801C>T;133255928C>G;133255935G>T;133256028C>T;133256074G>A;133256205G>C;133257486T>G;133275175dup] | CA2742038370 | ABO | n.[45dup;326A>C;555C>G;686C>T;732G>A;825C>A;832G>C;959G>A] n.[40dup;54-6334A>C;54-5053C>G;54-4922C>T;54-4876G>A;54-4783C>A;54-4776G>C;54-4649G>A] c.[15dup;28+17676A>C;28+18957C>G;28+19088C>T;28+19134G>A;28+19227C>A;28+19234G>C;28+19361G>A] (p.Arg6AlafsTer?) n.[27dup;308A>C;537C>G;668C>T;714G>A;807C>A;814G>C;941G>A] c.[15dup;294A>C;523C>G;654C>T;700G>A;793C>A;800G>C;927G>A] (p.Arg6AlafsTer51) c.[15dup;297A>C;526C>G;657C>T;703G>A;796C>A;803G>C;930G>A] (p.Arg6AlafsTer51) | ClinVar |
| 9 | g.[133255801C>T;133255928C>G;133255935G>T;133256028C>T;133256074G>A;133256205G>C;133257486T>G;133275186_133275190dup] | CA2742038371 | ABO | n.[31_35dup;326A>C;555C>G;686C>T;732G>A;825C>A;832G>C;959G>A] n.[26_30dup;54-6334A>C;54-5053C>G;54-4922C>T;54-4876G>A;54-4783C>A;54-4776G>C;54-4649G>A] c.[1_5dup;28+17676A>C;28+18957C>G;28+19088C>T;28+19134G>A;28+19227C>A;28+19234G>C;28+19361G>A] (p.Glu3TrpfsTer?) n.[13_17dup;308A>C;537C>G;668C>T;714G>A;807C>A;814G>C;941G>A] c.[1_5dup;294A>C;523C>G;654C>T;700G>A;793C>A;800G>C;927G>A] (p.Glu3TrpfsTer20) c.[1_5dup;297A>C;526C>G;657C>T;703G>A;796C>A;803G>C;930G>A] (p.Glu3TrpfsTer20) | ClinVar |
| 9 | g.133255802A= | CA1882579542 | ABO | n.958T= n.54-4650T= c.28+19360T= (n.28+19360T=) n.940T= c.926T= (p.Leu309=) c.929T= (p.Leu310=) | |
| 9 | g.133255802A>C | CA375684088 | ABO | n.958T>G n.54-4650T>G c.28+19360T>G (n.28+19360T>G) n.940T>G c.926T>G (p.Leu309Arg) c.929T>G (p.Leu310Arg) | |
| 9 | g.133255802A>G | CA375684090 | ABO | n.958T>C n.54-4650T>C c.28+19360T>C (n.28+19360T>C) n.940T>C c.926T>C (p.Leu309Pro) c.929T>C (p.Leu310Pro) | |
| 9 | g.133255802A>T | CA375684093 | ABO | n.958T>A n.54-4650T>A c.28+19360T>A (n.28+19360T>A) n.940T>A c.926T>A (p.Leu309Gln) c.929T>A (p.Leu310Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133255803G>A | CA5305684 | ABO | n.957C>T n.54-4651C>T c.28+19359C>T (n.28+19359C>T) n.939C>T c.925C>T (p.Leu309=) c.928C>T (p.Leu310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133255803G>C | CA5305683 | ABO | n.957C>G n.54-4651C>G c.28+19359C>G (n.28+19359C>G) n.939C>G c.925C>G (p.Leu309Val) c.928C>G (p.Leu310Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133255803G= | CA1882579545 | ABO | n.957C= n.54-4651C= c.28+19359C= (n.28+19359C=) n.939C= c.925C= (p.Leu309=) c.928C= (p.Leu310=) | |
| 9 | g.133255803G>T | CA375684096 | ABO | n.957C>A n.54-4651C>A c.28+19359C>A (n.28+19359C>A) n.939C>A c.925C>A (p.Leu309Met) c.928C>A (p.Leu310Met) | gnomAD v4 |
| 9 | g.133255804G>A | CA467852958 | ABO | n.956C>T n.54-4652C>T c.28+19358C>T (n.28+19358C>T) n.938C>T c.924C>T (p.Tyr308=) c.927C>T (p.Tyr309=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133255804G>C | CA375684102 | ABO | n.956C>G n.54-4652C>G c.28+19358C>G (n.28+19358C>G) n.938C>G c.924C>G (p.Tyr308Ter) c.927C>G (p.Tyr309Ter) | |
| 9 | g.133255804G= | CA1882579557 | ABO | n.956C= n.54-4652C= c.28+19358C= (n.28+19358C=) n.938C= c.924C= (p.Tyr308=) c.927C= (p.Tyr309=) | |
| 9 | g.133255804G>T | CA5305685 | ABO | n.956C>A n.54-4652C>A c.28+19358C>A (n.28+19358C>A) n.938C>A c.924C>A (p.Tyr308Ter) c.927C>A (p.Tyr309Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133255805T>A | CA375684124 | ABO | n.955A>T n.54-4653A>T c.28+19357A>T (n.28+19357A>T) n.937A>T c.923A>T (p.Tyr308Phe) c.926A>T (p.Tyr309Phe) | |
| 9 | g.133255805T>C | CA5305686 | ABO | n.955A>G n.54-4653A>G c.28+19357A>G (n.28+19357A>G) n.937A>G c.923A>G (p.Tyr308Cys) c.926A>G (p.Tyr309Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133255805T>G | CA375684108 | ABO | n.955A>C n.54-4653A>C c.28+19357A>C (n.28+19357A>C) n.937A>C c.923A>C (p.Tyr308Ser) c.926A>C (p.Tyr309Ser) | gnomAD v4 |
| 9 | g.133255805T= | CA1882579559 | ABO | n.955A= n.54-4653A= c.28+19357A= (n.28+19357A=) n.937A= c.923A= (p.Tyr308=) c.926A= (p.Tyr309=) | |
| 9 | g.133255806A= | CA1882579564 | ABO | n.954T= n.54-4654T= c.28+19356T= (n.28+19356T=) n.936T= c.922T= (p.Tyr308=) c.925T= (p.Tyr309=) | |
| 9 | g.133255806A>C | CA375684128 | ABO | n.954T>G n.54-4654T>G c.28+19356T>G (n.28+19356T>G) n.936T>G c.922T>G (p.Tyr308Asp) c.925T>G (p.Tyr309Asp) | |
| 9 | g.133255806A>G | CA375684130 | ABO | n.954T>C n.54-4654T>C c.28+19356T>C (n.28+19356T>C) n.936T>C c.922T>C (p.Tyr308His) c.925T>C (p.Tyr309His) | dbSNP |
| 9 | g.133255806A>T | CA375684136 | ABO | n.954T>A n.54-4654T>A c.28+19356T>A (n.28+19356T>A) n.936T>A c.922T>A (p.Tyr308Asn) c.925T>A (p.Tyr309Asn) | |
| 9 | g.133255807C>A | CA375684139 | ABO | n.953G>T n.54-4655G>T c.28+19355G>T (n.28+19355G>T) n.935G>T c.921G>T (p.Lys307Asn) c.924G>T (p.Lys308Asn) | |
| 9 | g.133255807C= | CA1882579567 | ABO | n.953G= n.54-4655G= c.28+19355G= (n.28+19355G=) n.935G= c.921G= (p.Lys307=) c.924G= (p.Lys308=) | |
| 9 | g.133255807C>G | CA375684143 | ABO | n.953G>C n.54-4655G>C c.28+19355G>C (n.28+19355G>C) n.935G>C c.921G>C (p.Lys307Asn) c.924G>C (p.Lys308Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133255807C>T | CA467852959 | ABO | n.953G>A n.54-4655G>A c.28+19355G>A (n.28+19355G>A) n.935G>A c.921G>A (p.Lys307=) c.924G>A (p.Lys308=) | |
| 9 | g.133255808T>A | CA375684147 | ABO | n.952A>T n.54-4656A>T c.28+19354A>T (n.28+19354A>T) n.934A>T c.920A>T (p.Lys307Met) c.923A>T (p.Lys308Met) | |
| 9 | g.133255808T>C | CA375684145 | ABO | n.952A>G n.54-4656A>G c.28+19354A>G (n.28+19354A>G) n.934A>G c.920A>G (p.Lys307Arg) c.923A>G (p.Lys308Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133255808T>G | CA375684144 | ABO | n.952A>C n.54-4656A>C c.28+19354A>C (n.28+19354A>C) n.934A>C c.920A>C (p.Lys307Thr) c.923A>C (p.Lys308Thr) | |
| 9 | g.133255808T= | CA1882579570 | ABO | n.952A= n.54-4656A= c.28+19354A= (n.28+19354A=) n.934A= c.920A= (p.Lys307=) c.923A= (p.Lys308=) |