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 |
|---|---|---|---|---|---|
| 10 | g.70435642C>A | CA376946038 | NODAL | c.535G>T (p.Glu179Ter) c.370G>T (p.Glu124Ter) c.136G>T (p.Glu46Ter) | |
| 10 | g.70435642C= | CA1918249873 | NODAL | c.535G= (p.Glu179=) c.370G= (p.Glu124=) c.136G= (p.Glu46=) | |
| 10 | g.70435642C>G | CA376946040 | NODAL | c.535G>C (p.Glu179Gln) c.370G>C (p.Glu124Gln) c.136G>C (p.Glu46Gln) | |
| 10 | g.70435642C>T | CA376946041 | NODAL | c.535G>A (p.Glu179Lys) c.370G>A (p.Glu124Lys) c.136G>A (p.Glu46Lys) | dbSNP gnomAD v2 |
| 10 | g.70435643T>A | CA470278902 | NODAL | c.534A>T (p.Gly178=) c.369A>T (p.Gly123=) c.135A>T (p.Gly45=) | gnomAD v4 |
| 10 | g.70435643T>C | CA470278903 | NODAL | c.534A>G (p.Gly178=) c.369A>G (p.Gly123=) c.135A>G (p.Gly45=) | dbSNP |
| 10 | g.70435643T>G | CA470278904 | NODAL | c.534A>C (p.Gly178=) c.369A>C (p.Gly123=) c.135A>C (p.Gly45=) | |
| 10 | g.70435643T= | CA1918249874 | NODAL | c.534A= (p.Gly178=) c.369A= (p.Gly123=) c.135A= (p.Gly45=) | |
| 10 | g.70435644C>A | CA209321822 | NODAL | c.533G>T (p.Gly178Val) c.368G>T (p.Gly123Val) c.134G>T (p.Gly45Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70435644C= | CA1918249875 | NODAL | c.533G= (p.Gly178=) c.368G= (p.Gly123=) c.134G= (p.Gly45=) | |
| 10 | g.70435644C>G | CA376946044 | NODAL | c.533G>C (p.Gly178Ala) c.368G>C (p.Gly123Ala) c.134G>C (p.Gly45Ala) | |
| 10 | g.70435644C>T | CA376946046 | NODAL | c.533G>A (p.Gly178Glu) c.368G>A (p.Gly123Glu) c.134G>A (p.Gly45Glu) | dbSNP |
| 10 | g.70435645C>A | CA376946048 | NODAL | c.532G>T (p.Gly178Ter) c.367G>T (p.Gly123Ter) c.133G>T (p.Gly45Ter) | |
| 10 | g.70435645C= | CA1918249876 | NODAL | c.532G= (p.Gly178=) c.367G= (p.Gly123=) c.133G= (p.Gly45=) | |
| 10 | g.70435645C>G | CA376946051 | NODAL | c.532G>C (p.Gly178Arg) c.367G>C (p.Gly123Arg) c.133G>C (p.Gly45Arg) | |
| 10 | g.70435645C>T | CA5537586 | NODAL | c.532G>A (p.Gly178Arg) c.367G>A (p.Gly123Arg) c.133G>A (p.Gly45Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70435646A= | CA1918249877 | NODAL | c.531T= (p.Ala177=) c.366T= (p.Ala122=) c.132T= (p.Ala44=) | |
| 10 | g.70435646A>C | CA470278906 | NODAL | c.531T>G (p.Ala177=) c.366T>G (p.Ala122=) c.132T>G (p.Ala44=) | |
| 10 | g.70435646A>G | CA5537587 | NODAL | c.531T>C (p.Ala177=) c.366T>C (p.Ala122=) c.132T>C (p.Ala44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435646A>T | CA470278905 | NODAL | c.531T>A (p.Ala177=) c.366T>A (p.Ala122=) c.132T>A (p.Ala44=) | |
| 10 | g.70435647G>A | CA376946054 | NODAL | c.530C>T (p.Ala177Val) c.365C>T (p.Ala122Val) c.131C>T (p.Ala44Val) | |
| 10 | g.70435647G>C | CA376946056 | NODAL | c.530C>G (p.Ala177Gly) c.365C>G (p.Ala122Gly) c.131C>G (p.Ala44Gly) | |
| 10 | g.70435647G>T | CA376946057 | NODAL | c.530C>A (p.Ala177Asp) c.365C>A (p.Ala122Asp) c.131C>A (p.Ala44Asp) | |
| 10 | g.70435648C>A | CA376946059 | NODAL | c.529G>T (p.Ala177Ser) c.364G>T (p.Ala122Ser) c.130G>T (p.Ala44Ser) | |
| 10 | g.70435648C>G | CA376946061 | NODAL | c.529G>C (p.Ala177Pro) c.364G>C (p.Ala122Pro) c.130G>C (p.Ala44Pro) | |
| 10 | g.70435648C>T | CA376946062 | NODAL | c.529G>A (p.Ala177Thr) c.364G>A (p.Ala122Thr) c.130G>A (p.Ala44Thr) | |
| 10 | g.70435649T>A | CA470278907 | NODAL | c.528A>T (p.Val176=) c.363A>T (p.Val121=) c.129A>T (p.Val43=) | |
| 10 | g.70435649T>C | CA470278908 | NODAL | c.528A>G (p.Val176=) c.363A>G (p.Val121=) c.129A>G (p.Val43=) | |
| 10 | g.70435649T>G | CA470278909 | NODAL | c.528A>C (p.Val176=) c.363A>C (p.Val121=) c.129A>C (p.Val43=) | |
| 10 | g.70435650A>C | CA376946063 | NODAL | c.527T>G (p.Val176Gly) c.362T>G (p.Val121Gly) c.128T>G (p.Val43Gly) | |
| 10 | g.70435650A>G | CA376946064 | NODAL | c.527T>C (p.Val176Ala) c.362T>C (p.Val121Ala) c.128T>C (p.Val43Ala) | |
| 10 | g.70435650A>T | CA376946065 | NODAL | c.527T>A (p.Val176Glu) c.362T>A (p.Val121Glu) c.128T>A (p.Val43Glu) | |
| 10 | g.70435651C>A | CA376946067 | NODAL | c.526G>T (p.Val176Leu) c.361G>T (p.Val121Leu) c.127G>T (p.Val43Leu) | |
| 10 | g.70435651C= | CA1918249878 | NODAL | c.526G= (p.Val176=) c.361G= (p.Val121=) c.127G= (p.Val43=) | |
| 10 | g.70435651C>G | CA376946071 | NODAL | c.526G>C (p.Val176Leu) c.361G>C (p.Val121Leu) c.127G>C (p.Val43Leu) | |
| 10 | g.70435651C>T | CA376946073 | NODAL | c.526G>A (p.Val176Ile) c.361G>A (p.Val121Ile) c.127G>A (p.Val43Ile) | dbSNP gnomAD v4 |
| 10 | g.70435652C>A | CA376946075 | NODAL | c.525G>T (p.Arg175Ser) c.360G>T (p.Arg120Ser) c.126G>T (p.Arg42Ser) | |
| 10 | g.70435652C>G | CA376946077 | NODAL | c.525G>C (p.Arg175Ser) c.360G>C (p.Arg120Ser) c.126G>C (p.Arg42Ser) | |
| 10 | g.70435652C>T | CA470278910 | NODAL | c.525G>A (p.Arg175=) c.360G>A (p.Arg120=) c.126G>A (p.Arg42=) | |
| 10 | g.70435653C>A | CA376946079 | NODAL | c.524G>T (p.Arg175Met) c.359G>T (p.Arg120Met) c.125G>T (p.Arg42Met) | |
| 10 | g.70435653C= | CA1918249879 | NODAL | c.524G= (p.Arg175=) c.359G= (p.Arg120=) c.125G= (p.Arg42=) | |
| 10 | g.70435653C>G | CA376946080 | NODAL | c.524G>C (p.Arg175Thr) c.359G>C (p.Arg120Thr) c.125G>C (p.Arg42Thr) | |
| 10 | g.70435653C>T | CA376946082 | NODAL | c.524G>A (p.Arg175Lys) c.359G>A (p.Arg120Lys) c.125G>A (p.Arg42Lys) | dbSNP gnomAD v4 |
| 10 | g.70435654T>A | CA376946084 | NODAL | c.523A>T (p.Arg175Trp) c.358A>T (p.Arg120Trp) c.124A>T (p.Arg42Trp) | |
| 10 | g.70435654T>C | CA376946086 | NODAL | c.523A>G (p.Arg175Gly) c.358A>G (p.Arg120Gly) c.124A>G (p.Arg42Gly) | |
| 10 | g.70435654T>G | CA470278911 | NODAL | c.523A>C (p.Arg175=) c.358A>C (p.Arg120=) c.124A>C (p.Arg42=) | |
| 10 | g.70435655G>A | CA470278912 | NODAL | c.522C>T (p.Ser174=) c.357C>T (p.Ser119=) c.123C>T (p.Ser41=) | |
| 10 | g.70435655G>C | CA470278913 | NODAL | c.522C>G (p.Ser174=) c.357C>G (p.Ser119=) c.123C>G (p.Ser41=) | dbSNP gnomAD v4 |
| 10 | g.70435655G= | CA1918249880 | NODAL | c.522C= (p.Ser174=) c.357C= (p.Ser119=) c.123C= (p.Ser41=) | |
| 10 | g.70435655G>T | CA470278914 | NODAL | c.522C>A (p.Ser174=) c.357C>A (p.Ser119=) c.123C>A (p.Ser41=) | gnomAD v4 |