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.34292378T>A | CA408658890 | AHCY | c.425A>T (p.Lys142Met) n.588A>T n.472A>T c.341A>T (p.Lys114Met) c.431A>T (p.Lys144Met) c.47A>T (p.Lys16Met) | |
| 20 | g.34292378T>C | CA408658891 | AHCY | c.425A>G (p.Lys142Arg) n.588A>G n.472A>G c.341A>G (p.Lys114Arg) c.431A>G (p.Lys144Arg) c.47A>G (p.Lys16Arg) | gnomAD v4 |
| 20 | g.34292378T>G | CA408658892 | AHCY | c.425A>C (p.Lys142Thr) n.588A>C n.472A>C c.341A>C (p.Lys114Thr) c.431A>C (p.Lys144Thr) c.47A>C (p.Lys16Thr) | |
| 20 | g.34292379T>A | CA408658893 | AHCY | c.424A>T (p.Lys142Ter) n.587A>T n.471A>T c.340A>T (p.Lys114Ter) c.430A>T (p.Lys144Ter) c.46A>T (p.Lys16Ter) | |
| 20 | g.34292379T>C | CA313352001 | AHCY | c.424A>G (p.Lys142Glu) n.587A>G n.471A>G c.340A>G (p.Lys114Glu) c.430A>G (p.Lys144Glu) c.46A>G (p.Lys16Glu) | dbSNP |
| 20 | g.34292379T>G | CA9821013 | AHCY | c.424A>C (p.Lys142Gln) n.587A>C n.471A>C c.340A>C (p.Lys114Gln) c.430A>C (p.Lys144Gln) c.46A>C (p.Lys16Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34292379T= | CA2361138425 | AHCY | c.424A= (p.Lys142=) n.587A= n.471A= c.340A= (p.Lys114=) c.430A= (p.Lys144=) c.46A= (p.Lys16=) | |
| 20 | g.34292380G>A | CA9821014 | AHCY | c.423C>T (p.Thr141=) n.586C>T n.470C>T c.339C>T (p.Thr113=) c.429C>T (p.Thr143=) c.45C>T (p.Thr15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34292380G>C | CA510273776 | AHCY | c.423C>G (p.Thr141=) n.586C>G n.470C>G c.339C>G (p.Thr113=) c.429C>G (p.Thr143=) c.45C>G (p.Thr15=) | |
| 20 | g.34292380G= | CA2361138426 | AHCY | c.423C= (p.Thr141=) n.586C= n.470C= c.339C= (p.Thr113=) c.429C= (p.Thr143=) c.45C= (p.Thr15=) | |
| 20 | g.34292380G>T | CA510273777 | AHCY | c.423C>A (p.Thr141=) n.586C>A n.470C>A c.339C>A (p.Thr113=) c.429C>A (p.Thr143=) c.45C>A (p.Thr15=) | |
| 20 | g.34292381G>A | CA9821015 | AHCY | c.422C>T (p.Thr141Ile) n.585C>T n.469C>T c.338C>T (p.Thr113Ile) c.428C>T (p.Thr143Ile) c.44C>T (p.Thr15Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34292381G>C | CA408658894 | AHCY | c.422C>G (p.Thr141Ser) n.585C>G n.469C>G c.338C>G (p.Thr113Ser) c.428C>G (p.Thr143Ser) c.44C>G (p.Thr15Ser) | |
| 20 | g.34292381G= | CA2361138427 | AHCY | c.422C= (p.Thr141=) n.585C= n.469C= c.338C= (p.Thr113=) c.428C= (p.Thr143=) c.44C= (p.Thr15=) | |
| 20 | g.34292381G>T | CA408658895 | AHCY | c.422C>A (p.Thr141Asn) n.585C>A n.469C>A c.338C>A (p.Thr113Asn) c.428C>A (p.Thr143Asn) c.44C>A (p.Thr15Asn) | |
| 20 | g.34292382T>A | CA408658898 | AHCY | c.421A>T (p.Thr141Ser) n.584A>T n.468A>T c.337A>T (p.Thr113Ser) c.427A>T (p.Thr143Ser) c.43A>T (p.Thr15Ser) | |
| 20 | g.34292382T>C | CA408658896 | AHCY | c.421A>G (p.Thr141Ala) n.584A>G n.468A>G c.337A>G (p.Thr113Ala) c.427A>G (p.Thr143Ala) c.43A>G (p.Thr15Ala) | |
| 20 | g.34292382T>G | CA408658897 | AHCY | c.421A>C (p.Thr141Pro) n.584A>C n.468A>C c.337A>C (p.Thr113Pro) c.427A>C (p.Thr143Pro) c.43A>C (p.Thr15Pro) | |
| 20 | g.34292383G>A | CA9821016 | AHCY | c.420C>T (p.His140=) n.583C>T n.467C>T c.336C>T (p.His112=) c.426C>T (p.His142=) c.42C>T (p.His14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34292383G>C | CA408658900 | AHCY | c.420C>G (p.His140Gln) n.583C>G n.467C>G c.336C>G (p.His112Gln) c.426C>G (p.His142Gln) c.42C>G (p.His14Gln) | |
| 20 | g.34292383G= | CA2361138428 | AHCY | c.420C= (p.His140=) n.583C= n.467C= c.336C= (p.His112=) c.426C= (p.His142=) c.42C= (p.His14=) | |
| 20 | g.34292383G>T | CA408658902 | AHCY | c.420C>A (p.His140Gln) n.583C>A n.467C>A c.336C>A (p.His112Gln) c.426C>A (p.His142Gln) c.42C>A (p.His14Gln) | |
| 20 | g.34292384T>A | CA408658904 | AHCY | c.419A>T (p.His140Leu) n.582A>T n.466A>T c.335A>T (p.His112Leu) c.425A>T (p.His142Leu) c.41A>T (p.His14Leu) | |
| 20 | g.34292384T>C | CA408658906 | AHCY | c.419A>G (p.His140Arg) n.582A>G n.466A>G c.335A>G (p.His112Arg) c.425A>G (p.His142Arg) c.41A>G (p.His14Arg) | |
| 20 | g.34292384T>G | CA408658908 | AHCY | c.419A>C (p.His140Pro) n.582A>C n.466A>C c.335A>C (p.His112Pro) c.425A>C (p.His142Pro) c.41A>C (p.His14Pro) | |
| 20 | g.34292385G>A | CA408658911 | AHCY | c.418C>T (p.His140Tyr) n.581C>T n.465C>T c.334C>T (p.His112Tyr) c.424C>T (p.His142Tyr) c.40C>T (p.His14Tyr) | gnomAD v4 |
| 20 | g.34292385G>C | CA408658914 | AHCY | c.418C>G (p.His140Asp) n.581C>G n.465C>G c.334C>G (p.His112Asp) c.424C>G (p.His142Asp) c.40C>G (p.His14Asp) | |
| 20 | g.34292385G>T | CA408658917 | AHCY | c.418C>A (p.His140Asn) n.581C>A n.465C>A c.334C>A (p.His112Asn) c.424C>A (p.His142Asn) c.40C>A (p.His14Asn) | |
| 20 | g.34292386G>A | CA510273778 | AHCY | c.417C>T (p.Ile139=) n.580C>T n.464C>T c.333C>T (p.Ile111=) c.423C>T (p.Ile141=) c.39C>T (p.Ile13=) | |
| 20 | g.34292386G>C | CA408658920 | AHCY | c.417C>G (p.Ile139Met) n.580C>G n.464C>G c.333C>G (p.Ile111Met) c.423C>G (p.Ile141Met) c.39C>G (p.Ile13Met) | |
| 20 | g.34292386G>T | CA510273779 | AHCY | c.417C>A (p.Ile139=) n.580C>A n.464C>A c.333C>A (p.Ile111=) c.423C>A (p.Ile141=) c.39C>A (p.Ile13=) | |
| 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 |