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 |
|---|---|---|---|---|---|
| 14 | g.87982207_87982245del | CA2695219699 | GALC | c.583_621del c.514_552del c.505_543del n.573_611del c.415_453del c.*332_*370del n.462_500del n.284_322del c.573_611del | |
| 14 | g.87982227G>A | CA390750813 | GALC | c.599C>T (p.Ser200Leu) c.530C>T (p.Ser177Leu) c.521C>T (p.Ser174Leu) n.589C>T c.431C>T (p.Ser144Leu) c.*348C>T (n.*348C>T) n.478C>T n.300C>T c.589C>T | |
| 14 | g.87982227G>C | CA390750814 | GALC | c.599C>G (p.Ser200Ter) c.530C>G (p.Ser177Ter) c.521C>G (p.Ser174Ter) n.589C>G c.431C>G (p.Ser144Ter) c.*348C>G (n.*348C>G) n.478C>G n.300C>G c.589C>G | |
| 14 | g.87982227G= | CA2153384564 | GALC | c.599C= (p.Ser200=) c.530C= (p.Ser177=) c.521C= (p.Ser174=) n.589C= c.431C= (p.Ser144=) c.*348C= (n.*348C=) n.478C= n.300C= c.589C= | |
| 14 | g.87982227G>T | CA274237 | GALC | c.599C>A (p.Ser200Ter) c.530C>A (p.Ser177Ter) c.521C>A (p.Ser174Ter) n.589C>A c.431C>A (p.Ser144Ter) c.*348C>A (n.*348C>A) n.478C>A n.300C>A c.589C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.87982228A= | CA2153384565 | GALC | c.598T= (p.Ser200=) c.529T= (p.Ser177=) c.520T= (p.Ser174=) n.588T= c.430T= (p.Ser144=) c.*347T= (n.*347T=) n.477T= n.299T= c.588T= | |
| 14 | g.87982228A>C | CA390750815 | GALC | c.598T>G (p.Ser200Ala) c.529T>G (p.Ser177Ala) c.520T>G (p.Ser174Ala) n.588T>G c.430T>G (p.Ser144Ala) c.*347T>G (n.*347T>G) n.477T>G n.299T>G c.588T>G | |
| 14 | g.87982228A>G | CA264710623 | GALC | c.598T>C (p.Ser200Pro) c.529T>C (p.Ser177Pro) c.520T>C (p.Ser174Pro) n.588T>C c.430T>C (p.Ser144Pro) c.*347T>C (n.*347T>C) n.477T>C n.299T>C c.588T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87982228A>T | CA390750817 | GALC | c.598T>A (p.Ser200Thr) c.529T>A (p.Ser177Thr) c.520T>A (p.Ser174Thr) n.588T>A c.430T>A (p.Ser144Thr) c.*347T>A (n.*347T>A) n.477T>A n.299T>A c.588T>A | |
| 14 | g.87982229C>A | CA390750825 | GALC | c.597G>T (p.Arg199Ser) c.528G>T (p.Arg176Ser) c.519G>T (p.Arg173Ser) n.587G>T c.429G>T (p.Arg143Ser) c.*346G>T (n.*346G>T) n.476G>T n.298G>T c.587G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.87982229C= | CA2153384566 | GALC | c.597G= (p.Arg199=) c.528G= (p.Arg176=) c.519G= (p.Arg173=) n.587G= c.429G= (p.Arg143=) c.*346G= (n.*346G=) n.476G= n.298G= c.587G= | |
| 14 | g.87982229C>G | CA390750827 | GALC | c.597G>C (p.Arg199Ser) c.528G>C (p.Arg176Ser) c.519G>C (p.Arg173Ser) n.587G>C c.429G>C (p.Arg143Ser) c.*346G>C (n.*346G>C) n.476G>C n.298G>C c.587G>C | |
| 14 | g.87982229C>T | CA487366354 | GALC | c.597G>A (p.Arg199=) c.528G>A (p.Arg176=) c.519G>A (p.Arg173=) n.587G>A c.429G>A (p.Arg143=) c.*346G>A (n.*346G>A) n.476G>A n.298G>A c.587G>A | gnomAD v4 |
| 14 | g.87982230C>A | CA390750830 | GALC | c.596G>T (p.Arg199Met) c.527G>T (p.Arg176Met) c.518G>T (p.Arg173Met) n.586G>T c.428G>T (p.Arg143Met) c.*345G>T (n.*345G>T) n.475G>T n.297G>T c.586G>T | gnomAD v4 |
| 14 | g.87982230C>G | CA390750831 | GALC | c.596G>C (p.Arg199Thr) c.527G>C (p.Arg176Thr) c.518G>C (p.Arg173Thr) n.586G>C c.428G>C (p.Arg143Thr) c.*345G>C (n.*345G>C) n.475G>C n.297G>C c.586G>C | |
| 14 | g.87982230C>T | CA390750832 | GALC | c.596G>A (p.Arg199Lys) c.527G>A (p.Arg176Lys) c.518G>A (p.Arg173Lys) n.586G>A c.428G>A (p.Arg143Lys) c.*345G>A (n.*345G>A) n.475G>A n.297G>A c.586G>A | gnomAD v4 |
| 14 | g.87982233_87982234del | CA2575595267 | GALC | c.595_596del (p.Arg199ValfsTer3) c.526_527del (p.Arg176ValfsTer3) c.517_518del (p.Arg173ValfsTer3) n.585_586del c.427_428del (p.Arg143ValfsTer3) c.*344_*345del (n.*344_*345del) n.474_475del n.296_297del c.585_586del | |
| 14 | g.87982231T>A | CA390750833 | GALC | c.595A>T (p.Arg199Trp) c.526A>T (p.Arg176Trp) c.517A>T (p.Arg173Trp) n.585A>T c.427A>T (p.Arg143Trp) c.*344A>T (n.*344A>T) n.474A>T n.296A>T c.585A>T | |
| 14 | g.87982231T>C | CA390750834 | GALC | c.595A>G (p.Arg199Gly) c.526A>G (p.Arg176Gly) c.517A>G (p.Arg173Gly) n.585A>G c.427A>G (p.Arg143Gly) c.*344A>G (n.*344A>G) n.474A>G n.296A>G c.585A>G | gnomAD v4 |
| 14 | g.87982231T>G | CA487366355 | GALC | c.595A>C (p.Arg199=) c.526A>C (p.Arg176=) c.517A>C (p.Arg173=) n.585A>C c.427A>C (p.Arg143=) c.*344A>C (n.*344A>C) n.474A>C n.296A>C c.585A>C | |
| 14 | g.87982232C>A | CA390750835 | GALC | c.594G>T (p.Glu198Asp) c.525G>T (p.Glu175Asp) c.516G>T (p.Glu172Asp) n.584G>T c.426G>T (p.Glu142Asp) c.*343G>T (n.*343G>T) n.473G>T n.295G>T c.584G>T | |
| 14 | g.87982232C>G | CA390750837 | GALC | c.594G>C (p.Glu198Asp) c.525G>C (p.Glu175Asp) c.516G>C (p.Glu172Asp) n.584G>C c.426G>C (p.Glu142Asp) c.*343G>C (n.*343G>C) n.473G>C n.295G>C c.584G>C | |
| 14 | g.87982232C>T | CA487366356 | GALC | c.594G>A (p.Glu198=) c.525G>A (p.Glu175=) c.516G>A (p.Glu172=) n.584G>A c.426G>A (p.Glu142=) c.*343G>A (n.*343G>A) n.473G>A n.295G>A c.584G>A | |
| 14 | g.87982233T>A | CA390750839 | GALC | c.593A>T (p.Glu198Val) c.524A>T (p.Glu175Val) c.515A>T (p.Glu172Val) n.583A>T c.425A>T (p.Glu142Val) c.*342A>T (n.*342A>T) n.472A>T n.294A>T c.583A>T | |
| 14 | g.87982233T>C | CA390750841 | GALC | c.593A>G (p.Glu198Gly) c.524A>G (p.Glu175Gly) c.515A>G (p.Glu172Gly) n.583A>G c.425A>G (p.Glu142Gly) c.*342A>G (n.*342A>G) n.472A>G n.294A>G c.583A>G | gnomAD v4 |
| 14 | g.87982233T>G | CA390750842 | GALC | c.593A>C (p.Glu198Ala) c.524A>C (p.Glu175Ala) c.515A>C (p.Glu172Ala) n.583A>C c.425A>C (p.Glu142Ala) c.*342A>C (n.*342A>C) n.472A>C n.294A>C c.583A>C | ClinVar |
| 14 | g.87982234C>A | CA390750848 | GALC | c.592G>T (p.Glu198Ter) c.523G>T (p.Glu175Ter) c.514G>T (p.Glu172Ter) n.582G>T c.424G>T (p.Glu142Ter) c.*341G>T (n.*341G>T) n.471G>T n.293G>T c.582G>T | gnomAD v4 |
| 14 | g.87982234C= | CA2153384567 | GALC | c.592G= (p.Glu198=) c.523G= (p.Glu175=) c.514G= (p.Glu172=) n.582G= c.424G= (p.Glu142=) c.*341G= (n.*341G=) n.471G= n.293G= c.582G= | |
| 14 | g.87982234C>G | CA390750844 | GALC | c.592G>C (p.Glu198Gln) c.523G>C (p.Glu175Gln) c.514G>C (p.Glu172Gln) n.582G>C c.424G>C (p.Glu142Gln) c.*341G>C (n.*341G>C) n.471G>C n.293G>C c.582G>C | |
| 14 | g.87982234C>T | CA264710625 | GALC | c.592G>A (p.Glu198Lys) c.523G>A (p.Glu175Lys) c.514G>A (p.Glu172Lys) n.582G>A c.424G>A (p.Glu142Lys) c.*341G>A (n.*341G>A) n.471G>A n.293G>A c.582G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87982234dup | CA912979925 | GALC | c.592dup (p.Glu198GlyfsTer5) c.523dup (p.Glu175GlyfsTer5) c.514dup (p.Glu172GlyfsTer5) n.582dup c.424dup (p.Glu142GlyfsTer5) c.*341dup (n.*341dup) n.471dup n.293dup c.582dup | |
| 14 | g.87982235A= | CA2153384568 | GALC | c.591T= (p.Asn197=) c.522T= (p.Asn174=) c.513T= (p.Asn171=) n.581T= c.423T= (p.Asn141=) c.*340T= (n.*340T=) n.470T= n.292T= c.581T= | |
| 14 | g.87982235A>C | CA390750850 | GALC | c.591T>G (p.Asn197Lys) c.522T>G (p.Asn174Lys) c.513T>G (p.Asn171Lys) n.581T>G c.423T>G (p.Asn141Lys) c.*340T>G (n.*340T>G) n.470T>G n.292T>G c.581T>G | gnomAD v4 |
| 14 | g.87982235A>G | CA487366360 | GALC | c.591T>C (p.Asn197=) c.522T>C (p.Asn174=) c.513T>C (p.Asn171=) n.581T>C c.423T>C (p.Asn141=) c.*340T>C (n.*340T>C) n.470T>C n.292T>C c.581T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87982235A>T | CA390750855 | GALC | c.591T>A (p.Asn197Lys) c.522T>A (p.Asn174Lys) c.513T>A (p.Asn171Lys) n.581T>A c.423T>A (p.Asn141Lys) c.*340T>A (n.*340T>A) n.470T>A n.292T>A c.581T>A | |
| 14 | g.87982235dup | CA658823913 | GALC | c.591dup (p.Glu198Ter) c.522dup (p.Glu175Ter) c.513dup (p.Glu172Ter) n.581dup c.423dup (p.Glu142Ter) c.*340dup (n.*340dup) n.470dup n.292dup c.581dup | ClinVar dbSNP |
| 14 | g.87982236T>A | CA390750857 | GALC | c.590A>T (p.Asn197Ile) c.521A>T (p.Asn174Ile) c.512A>T (p.Asn171Ile) n.580A>T c.422A>T (p.Asn141Ile) c.*339A>T (n.*339A>T) n.469A>T n.291A>T c.580A>T | |
| 14 | g.87982236T>C | CA390750859 | GALC | c.590A>G (p.Asn197Ser) c.521A>G (p.Asn174Ser) c.512A>G (p.Asn171Ser) n.580A>G c.422A>G (p.Asn141Ser) c.*339A>G (n.*339A>G) n.469A>G n.291A>G c.580A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87982236T>G | CA390750861 | GALC | c.590A>C (p.Asn197Thr) c.521A>C (p.Asn174Thr) c.512A>C (p.Asn171Thr) n.580A>C c.422A>C (p.Asn141Thr) c.*339A>C (n.*339A>C) n.469A>C n.291A>C c.580A>C | |
| 14 | g.87982236T= | CA2153384569 | GALC | c.590A= (p.Asn197=) c.521A= (p.Asn174=) c.512A= (p.Asn171=) n.580A= c.422A= (p.Asn141=) c.*339A= (n.*339A=) n.469A= n.291A= c.580A= | |
| 14 | g.87982237T>A | CA390750863 | GALC | c.589A>T (p.Asn197Tyr) c.520A>T (p.Asn174Tyr) c.511A>T (p.Asn171Tyr) n.579A>T c.421A>T (p.Asn141Tyr) c.*338A>T (n.*338A>T) n.468A>T n.290A>T c.579A>T | |
| 14 | g.87982237T>C | CA390750865 | GALC | c.589A>G (p.Asn197Asp) c.520A>G (p.Asn174Asp) c.511A>G (p.Asn171Asp) n.579A>G c.421A>G (p.Asn141Asp) c.*338A>G (n.*338A>G) n.468A>G n.290A>G c.579A>G | |
| 14 | g.87982237T>G | CA390750868 | GALC | c.589A>C (p.Asn197His) c.520A>C (p.Asn174His) c.511A>C (p.Asn171His) n.579A>C c.421A>C (p.Asn141His) c.*338A>C (n.*338A>C) n.468A>C n.290A>C c.579A>C | |
| 14 | g.87982238C>A | CA390750869 | GALC | c.588G>T (p.Trp196Cys) c.519G>T (p.Trp173Cys) c.510G>T (p.Trp170Cys) n.578G>T c.420G>T (p.Trp140Cys) c.*337G>T (n.*337G>T) n.467G>T n.289G>T c.578G>T | |
| 14 | g.87982238C>G | CA390750871 | GALC | c.588G>C (p.Trp196Cys) c.519G>C (p.Trp173Cys) c.510G>C (p.Trp170Cys) n.578G>C c.420G>C (p.Trp140Cys) c.*337G>C (n.*337G>C) n.467G>C n.289G>C c.578G>C | |
| 14 | g.87982238C>T | CA390750873 | GALC | c.588G>A (p.Trp196Ter) c.519G>A (p.Trp173Ter) c.510G>A (p.Trp170Ter) n.578G>A c.420G>A (p.Trp140Ter) c.*337G>A (n.*337G>A) n.467G>A n.289G>A c.578G>A | gnomAD v4 |
| 14 | g.87982239C>A | CA390750877 | GALC | c.587G>T (p.Trp196Leu) c.518G>T (p.Trp173Leu) c.509G>T (p.Trp170Leu) n.577G>T c.419G>T (p.Trp140Leu) c.*336G>T (n.*336G>T) n.466G>T n.288G>T c.577G>T | gnomAD v4 |
| 14 | g.87982239C>G | CA390750876 | GALC | c.587G>C (p.Trp196Ser) c.518G>C (p.Trp173Ser) c.509G>C (p.Trp170Ser) n.577G>C c.419G>C (p.Trp140Ser) c.*336G>C (n.*336G>C) n.466G>C n.288G>C c.577G>C | |
| 14 | g.87982239C>T | CA390750875 | GALC | c.587G>A (p.Trp196Ter) c.518G>A (p.Trp173Ter) c.509G>A (p.Trp170Ter) n.577G>A c.419G>A (p.Trp140Ter) c.*336G>A (n.*336G>A) n.466G>A n.288G>A c.577G>A | |
| 14 | g.87982240A>C | CA390750878 | GALC | c.586T>G (p.Trp196Gly) c.517T>G (p.Trp173Gly) c.508T>G (p.Trp170Gly) n.576T>G c.418T>G (p.Trp140Gly) c.*335T>G (n.*335T>G) n.465T>G n.287T>G c.576T>G |