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 |
|---|---|---|---|---|---|
| 11 | g.113932382G>A | CA6284053 | HTR3B | c.462G>A (p.Ala154=) c.429G>A (p.Ala143=) c.248G>A c.261G>A (p.Ala87=) c.255G>A (p.Ala85=) c.168G>A (p.Ala56=) n.713G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113932382G>C | CA6284054 | HTR3B | c.462G>C (p.Ala154=) c.429G>C (p.Ala143=) c.248G>C c.261G>C (p.Ala87=) c.255G>C (p.Ala85=) c.168G>C (p.Ala56=) n.713G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113932382G= | CA2001397957 | HTR3B | c.462G= (p.Ala154=) c.429G= (p.Ala143=) c.248G= c.261G= (p.Ala87=) c.255G= (p.Ala85=) c.168G= (p.Ala56=) n.713G= | |
| 11 | g.113932382G>T | CA6284055 | HTR3B | c.462G>T (p.Ala154=) c.429G>T (p.Ala143=) c.248G>T c.261G>T (p.Ala87=) c.255G>T (p.Ala85=) c.168G>T (p.Ala56=) n.713G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113932383T>A | CA382668943 | HTR3B | c.463T>A (p.Cys155Ser) c.430T>A (p.Cys144Ser) c.249T>A c.262T>A (p.Cys88Ser) c.256T>A (p.Cys86Ser) c.169T>A (p.Cys57Ser) n.714T>A | |
| 11 | g.113932383T>C | CA382668946 | HTR3B | c.463T>C (p.Cys155Arg) c.430T>C (p.Cys144Arg) c.249T>C c.262T>C (p.Cys88Arg) c.256T>C (p.Cys86Arg) c.169T>C (p.Cys57Arg) n.714T>C | |
| 11 | g.113932383T>G | CA6284056 | HTR3B | c.463T>G (p.Cys155Gly) c.430T>G (p.Cys144Gly) c.249T>G c.262T>G (p.Cys88Gly) c.256T>G (p.Cys86Gly) c.169T>G (p.Cys57Gly) n.714T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113932383T= | CA2001397958 | HTR3B | c.463T= (p.Cys155=) c.430T= (p.Cys144=) c.249T= c.262T= (p.Cys88=) c.256T= (p.Cys86=) c.169T= (p.Cys57=) n.714T= | |
| 11 | g.113932384G>A | CA382668954 | HTR3B | c.464G>A (p.Cys155Tyr) c.431G>A (p.Cys144Tyr) c.250G>A c.263G>A (p.Cys88Tyr) c.257G>A (p.Cys86Tyr) c.170G>A (p.Cys57Tyr) n.715G>A | |
| 11 | g.113932384G>C | CA228668011 | HTR3B | c.464G>C (p.Cys155Ser) c.431G>C (p.Cys144Ser) c.250G>C c.263G>C (p.Cys88Ser) c.257G>C (p.Cys86Ser) c.170G>C (p.Cys57Ser) n.715G>C | dbSNP |
| 11 | g.113932384G= | CA2001397959 | HTR3B | c.464G= (p.Cys155=) c.431G= (p.Cys144=) c.250G= c.263G= (p.Cys88=) c.257G= (p.Cys86=) c.170G= (p.Cys57=) n.715G= | |
| 11 | g.113932384G>T | CA382668952 | HTR3B | c.464G>T (p.Cys155Phe) c.431G>T (p.Cys144Phe) c.250G>T c.263G>T (p.Cys88Phe) c.257G>T (p.Cys86Phe) c.170G>T (p.Cys57Phe) n.715G>T | |
| 11 | g.113932385C>A | CA382668957 | HTR3B | c.465C>A (p.Cys155Ter) c.432C>A (p.Cys144Ter) c.251C>A c.264C>A (p.Cys88Ter) c.258C>A (p.Cys86Ter) c.171C>A (p.Cys57Ter) n.716C>A | |
| 11 | g.113932385C>G | CA382668959 | HTR3B | c.465C>G (p.Cys155Trp) c.432C>G (p.Cys144Trp) c.251C>G c.264C>G (p.Cys88Trp) c.258C>G (p.Cys86Trp) c.171C>G (p.Cys57Trp) n.716C>G | |
| 11 | g.113932385C>T | CA476831380 | HTR3B | c.465C>T (p.Cys155=) c.432C>T (p.Cys144=) c.251C>T c.264C>T (p.Cys88=) c.258C>T (p.Cys86=) c.171C>T (p.Cys57=) n.716C>T | dbSNP |
| 11 | g.113932386A= | CA2001397960 | HTR3B | c.466A= (p.Ser156=) c.433A= (p.Ser145=) c.252A= c.265A= (p.Ser89=) c.259A= (p.Ser87=) c.172A= (p.Ser58=) n.717A= | |
| 11 | g.113932386A>C | CA6284057 | HTR3B | c.466A>C (p.Ser156Arg) c.433A>C (p.Ser145Arg) c.252A>C c.265A>C (p.Ser89Arg) c.259A>C (p.Ser87Arg) c.172A>C (p.Ser58Arg) n.717A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113932386A>G | CA382668962 | HTR3B | c.466A>G (p.Ser156Gly) c.433A>G (p.Ser145Gly) c.252A>G c.265A>G (p.Ser89Gly) c.259A>G (p.Ser87Gly) c.172A>G (p.Ser58Gly) n.717A>G | |
| 11 | g.113932386A>T | CA382668965 | HTR3B | c.466A>T (p.Ser156Cys) c.433A>T (p.Ser145Cys) c.252A>T c.265A>T (p.Ser89Cys) c.259A>T (p.Ser87Cys) c.172A>T (p.Ser58Cys) n.717A>T | |
| 11 | g.113932387G>A | CA6284058 | HTR3B | c.467G>A (p.Ser156Asn) c.434G>A (p.Ser145Asn) c.253G>A c.266G>A (p.Ser89Asn) c.260G>A (p.Ser87Asn) c.173G>A (p.Ser58Asn) n.718G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113932387G>C | CA382668971 | HTR3B | c.467G>C (p.Ser156Thr) c.434G>C (p.Ser145Thr) c.253G>C c.266G>C (p.Ser89Thr) c.260G>C (p.Ser87Thr) c.173G>C (p.Ser58Thr) n.718G>C | |
| 11 | g.113932387G= | CA2001397962 | HTR3B | c.467G= (p.Ser156=) c.434G= (p.Ser145=) c.253G= c.266G= (p.Ser89=) c.260G= (p.Ser87=) c.173G= (p.Ser58=) n.718G= | |
| 11 | g.113932387G>T | CA382668973 | HTR3B | c.467G>T (p.Ser156Ile) c.434G>T (p.Ser145Ile) c.253G>T c.266G>T (p.Ser89Ile) c.260G>T (p.Ser87Ile) c.173G>T (p.Ser58Ile) n.718G>T | |
| 11 | g.113932387_113932388delinsGT | CA2001397961 | HTR3B | c.467_468delinsGT (p.Ser156=) c.434_435delinsGT (p.Ser145=) c.253_254delinsGT c.266_267delinsGT (p.Ser89=) c.260_261delinsGT (p.Ser87=) c.173_174delinsGT (p.Ser58=) n.718_719delinsGT | |
| 11 | g.113932388T>A | CA382668976 | HTR3B | c.468T>A (p.Ser156Arg) c.435T>A (p.Ser145Arg) c.254T>A c.267T>A (p.Ser89Arg) c.261T>A (p.Ser87Arg) c.174T>A (p.Ser58Arg) n.719T>A | |
| 11 | g.113932388T>C | CA476831390 | HTR3B | c.468T>C (p.Ser156=) c.435T>C (p.Ser145=) c.254T>C c.267T>C (p.Ser89=) c.261T>C (p.Ser87=) c.174T>C (p.Ser58=) n.719T>C | |
| 11 | g.113932388T>G | CA382668979 | HTR3B | c.468T>G (p.Ser156Arg) c.435T>G (p.Ser145Arg) c.254T>G c.267T>G (p.Ser89Arg) c.261T>G (p.Ser87Arg) c.174T>G (p.Ser58Arg) n.719T>G | |
| 11 | g.113932390del | CA671975725 | HTR3B | c.470del (p.Leu157Ter) c.437del (p.Leu146Ter) c.256del c.269del (p.Leu90Ter) c.263del (p.Leu88Ter) c.176del (p.Leu59Ter) n.721del | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113932389T>A | CA382668981 | HTR3B | c.469T>A (p.Leu157Ile) c.436T>A (p.Leu146Ile) c.255T>A c.268T>A (p.Leu90Ile) c.262T>A (p.Leu88Ile) c.175T>A (p.Leu59Ile) n.720T>A | |
| 11 | g.113932389T>C | CA476831393 | HTR3B | c.469T>C (p.Leu157=) c.436T>C (p.Leu146=) c.255T>C c.268T>C (p.Leu90=) c.262T>C (p.Leu88=) c.175T>C (p.Leu59=) n.720T>C | |
| 11 | g.113932389T>G | CA382668984 | HTR3B | c.469T>G (p.Leu157Val) c.436T>G (p.Leu146Val) c.255T>G c.268T>G (p.Leu90Val) c.262T>G (p.Leu88Val) c.175T>G (p.Leu59Val) n.720T>G | |
| 11 | g.113932390T>A | CA382668986 | HTR3B | c.470T>A (p.Leu157Ter) c.437T>A (p.Leu146Ter) c.256T>A c.269T>A (p.Leu90Ter) c.263T>A (p.Leu88Ter) c.176T>A (p.Leu59Ter) n.721T>A | |
| 11 | g.113932390T>C | CA382668990 | HTR3B | c.470T>C (p.Leu157Ser) c.437T>C (p.Leu146Ser) c.256T>C c.269T>C (p.Leu90Ser) c.263T>C (p.Leu88Ser) c.176T>C (p.Leu59Ser) n.721T>C | |
| 11 | g.113932390T>G | CA382668988 | HTR3B | c.470T>G (p.Leu157Ter) c.437T>G (p.Leu146Ter) c.256T>G c.269T>G (p.Leu90Ter) c.263T>G (p.Leu88Ter) c.176T>G (p.Leu59Ter) n.721T>G | |
| 11 | g.113932391A= | CA2001397963 | HTR3B | c.471A= (p.Leu157=) c.438A= (p.Leu146=) c.257A= c.270A= (p.Leu90=) c.264A= (p.Leu88=) c.177A= (p.Leu59=) n.722A= | |
| 11 | g.113932391A>C | CA382668994 | HTR3B | c.471A>C (p.Leu157Phe) c.438A>C (p.Leu146Phe) c.257A>C c.270A>C (p.Leu90Phe) c.264A>C (p.Leu88Phe) c.177A>C (p.Leu59Phe) n.722A>C | |
| 11 | g.113932391A>G | CA476831408 | HTR3B | c.471A>G (p.Leu157=) c.438A>G (p.Leu146=) c.257A>G c.270A>G (p.Leu90=) c.264A>G (p.Leu88=) c.177A>G (p.Leu59=) n.722A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113932391A>T | CA382668996 | HTR3B | c.471A>T (p.Leu157Phe) c.438A>T (p.Leu146Phe) c.257A>T c.270A>T (p.Leu90Phe) c.264A>T (p.Leu88Phe) c.177A>T (p.Leu59Phe) n.722A>T | |
| 11 | g.113932392G>A | CA382668999 | HTR3B | c.472G>A (p.Glu158Lys) c.439G>A (p.Glu147Lys) c.258G>A c.271G>A (p.Glu91Lys) c.265G>A (p.Glu89Lys) c.178G>A (p.Glu60Lys) n.723G>A | |
| 11 | g.113932392G>C | CA6284059 | HTR3B | c.472G>C (p.Glu158Gln) c.439G>C (p.Glu147Gln) c.258G>C c.271G>C (p.Glu91Gln) c.265G>C (p.Glu89Gln) c.178G>C (p.Glu60Gln) n.723G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113932392G= | CA2001397964 | HTR3B | c.472G= (p.Glu158=) c.439G= (p.Glu147=) c.258G= c.271G= (p.Glu91=) c.265G= (p.Glu89=) c.178G= (p.Glu60=) n.723G= | |
| 11 | g.113932392G>T | CA382669001 | HTR3B | c.472G>T (p.Glu158Ter) c.439G>T (p.Glu147Ter) c.258G>T c.271G>T (p.Glu91Ter) c.265G>T (p.Glu89Ter) c.178G>T (p.Glu60Ter) n.723G>T | |
| 11 | g.113932393A>C | CA382669006 | HTR3B | c.473A>C (p.Glu158Ala) c.440A>C (p.Glu147Ala) c.259A>C c.272A>C (p.Glu91Ala) c.266A>C (p.Glu89Ala) c.179A>C (p.Glu60Ala) n.724A>C | |
| 11 | g.113932393A>G | CA382669009 | HTR3B | c.473A>G (p.Glu158Gly) c.440A>G (p.Glu147Gly) c.259A>G c.272A>G (p.Glu91Gly) c.266A>G (p.Glu89Gly) c.179A>G (p.Glu60Gly) n.724A>G | gnomAD v4 |
| 11 | g.113932393A>T | CA382669015 | HTR3B | c.473A>T (p.Glu158Val) c.440A>T (p.Glu147Val) c.259A>T c.272A>T (p.Glu91Val) c.266A>T (p.Glu89Val) c.179A>T (p.Glu60Val) n.724A>T | |
| 11 | g.113932394G>A | CA476831419 | HTR3B | c.474G>A (p.Glu158=) c.441G>A (p.Glu147=) c.260G>A c.273G>A (p.Glu91=) c.267G>A (p.Glu89=) c.180G>A (p.Glu60=) n.725G>A | |
| 11 | g.113932394G>C | CA382669018 | HTR3B | c.474G>C (p.Glu158Asp) c.441G>C (p.Glu147Asp) c.260G>C c.273G>C (p.Glu91Asp) c.267G>C (p.Glu89Asp) c.180G>C (p.Glu60Asp) n.725G>C | |
| 11 | g.113932394G>T | CA382669020 | HTR3B | c.474G>T (p.Glu158Asp) c.441G>T (p.Glu147Asp) c.260G>T c.273G>T (p.Glu91Asp) c.267G>T (p.Glu89Asp) c.180G>T (p.Glu60Asp) n.725G>T | |
| 11 | g.113932395A= | CA2001397965 | HTR3B | c.475A= (p.Thr159=) c.442A= (p.Thr148=) c.261A= c.274A= (p.Thr92=) c.268A= (p.Thr90=) c.181A= (p.Thr61=) n.726A= | |
| 11 | g.113932395A>C | CA382669022 | HTR3B | c.475A>C (p.Thr159Pro) c.442A>C (p.Thr148Pro) c.261A>C c.274A>C (p.Thr92Pro) c.268A>C (p.Thr90Pro) c.181A>C (p.Thr61Pro) n.726A>C |