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 |
|---|---|---|---|---|---|
| X | g.48792376G>A | CA412870656 | GATA1 | c.403G>A (p.Asp135Asn) c.652G>A (p.Asp218Asn) | ClinVar dbSNP |
| X | g.48792376G>C | CA412870657 | GATA1 | c.403G>C (p.Asp135His) c.652G>C (p.Asp218His) | |
| X | g.48792376G= | CA2428390655 | GATA1 | c.403G= (p.Asp135=) c.652G= (p.Asp218=) | |
| X | g.48792376G>T | CA121069 | GATA1 | c.403G>T (p.Asp135Tyr) c.652G>T (p.Asp218Tyr) | ClinVar dbSNP |
| X | g.48792377A= | CA2428390656 | GATA1 | c.404A= (p.Asp135=) c.653A= (p.Asp218=) | |
| X | g.48792377A>C | CA412870659 | GATA1 | c.404A>C (p.Asp135Ala) c.653A>C (p.Asp218Ala) | |
| X | g.48792377A>G | CA121064 | GATA1 | c.404A>G (p.Asp135Gly) c.653A>G (p.Asp218Gly) | ClinVar dbSNP |
| X | g.48792377A>T | CA412870662 | GATA1 | c.404A>T (p.Asp135Val) c.653A>T (p.Asp218Val) | |
| X | g.48792378C>A | CA412870669 | GATA1 | c.405C>A (p.Asp135Glu) c.654C>A (p.Asp218Glu) | |
| X | g.48792378C>G | CA412870671 | GATA1 | c.405C>G (p.Asp135Glu) c.654C>G (p.Asp218Glu) | |
| X | g.48792378C>T | CA516357679 | GATA1 | c.405C>T (p.Asp135=) c.654C>T (p.Asp218=) | |
| X | g.48792379A>C | CA516357690 | GATA1 | c.406A>C (p.Arg136=) c.655A>C (p.Arg219=) | |
| X | g.48792379A>G | CA412870674 | GATA1 | c.406A>G (p.Arg136Gly) c.655A>G (p.Arg219Gly) | |
| X | g.48792379A>T | CA412870675 | GATA1 | c.406A>T (p.Arg136Trp) c.655A>T (p.Arg219Trp) | |
| X | g.48792380G>A | CA412870679 | GATA1 | c.407G>A (p.Arg136Lys) c.656G>A (p.Arg219Lys) | |
| X | g.48792380G>C | CA412870686 | GATA1 | c.407G>C (p.Arg136Thr) c.656G>C (p.Arg219Thr) | |
| X | g.48792380G>T | CA412870688 | GATA1 | c.407G>T (p.Arg136Met) c.656G>T (p.Arg219Met) | |
| X | g.48792381G>A | CA516357695 | GATA1 | c.408G>A (p.Arg136=) c.657G>A (p.Arg219=) | |
| X | g.48792381G>C | CA412870692 | GATA1 | c.408G>C (p.Arg136Ser) c.657G>C (p.Arg219Ser) | |
| X | g.48792381G>T | CA412870694 | GATA1 | c.408G>T (p.Arg136Ser) c.657G>T (p.Arg219Ser) | |
| X | g.48792382A>C | CA412870696 | GATA1 | c.409A>C (p.Thr137Pro) c.658A>C (p.Thr220Pro) | ClinVar |
| X | g.48792382A>G | CA412870699 | GATA1 | c.409A>G (p.Thr137Ala) c.658A>G (p.Thr220Ala) | |
| X | g.48792382A>T | CA412870701 | GATA1 | c.409A>T (p.Thr137Ser) c.658A>T (p.Thr220Ser) | |
| X | g.48792383C>A | CA412870703 | GATA1 | c.410C>A (p.Thr137Lys) c.659C>A (p.Thr220Lys) | |
| X | g.48792383C>G | CA412870706 | GATA1 | c.410C>G (p.Thr137Arg) c.659C>G (p.Thr220Arg) | |
| X | g.48792383C>T | CA412870708 | GATA1 | c.410C>T (p.Thr137Ile) c.659C>T (p.Thr220Ile) | |
| X | g.48792384A= | CA2428390657 | GATA1 | c.411A= (p.Thr137=) c.660A= (p.Thr220=) | |
| X | g.48792384A>C | CA516357701 | GATA1 | c.411A>C (p.Thr137=) c.660A>C (p.Thr220=) | |
| X | g.48792384A>G | CA329106886 | GATA1 | c.411A>G (p.Thr137=) c.660A>G (p.Thr220=) | dbSNP |
| X | g.48792384A>T | CA516357707 | GATA1 | c.411A>T (p.Thr137=) c.660A>T (p.Thr220=) | |
| X | g.48792385G>A | CA412870713 | GATA1 | c.412G>A (p.Gly138Ser) c.661G>A (p.Gly221Ser) | ClinVar dbSNP |
| X | g.48792385G>C | CA412870716 | GATA1 | c.412G>C (p.Gly138Arg) c.661G>C (p.Gly221Arg) | |
| X | g.48792385G= | CA2428390658 | GATA1 | c.412G= (p.Gly138=) c.661G= (p.Gly221=) | |
| X | g.48792385G>T | CA412870712 | GATA1 | c.412G>T (p.Gly138Cys) c.661G>T (p.Gly221Cys) | |
| X | g.48792386G>A | CA412870719 | GATA1 | c.413G>A (p.Gly138Asp) c.662G>A (p.Gly221Asp) | |
| X | g.48792386G>C | CA412870724 | GATA1 | c.413G>C (p.Gly138Ala) c.662G>C (p.Gly221Ala) | |
| X | g.48792386G>T | CA412870721 | GATA1 | c.413G>T (p.Gly138Val) c.662G>T (p.Gly221Val) | |
| X | g.48792387C>A | CA516357711 | GATA1 | c.414C>A (p.Gly138=) c.663C>A (p.Gly221=) | |
| X | g.48792387C= | CA2428390659 | GATA1 | c.414C= (p.Gly138=) c.663C= (p.Gly221=) | |
| X | g.48792387C>G | CA10404646 | GATA1 | c.414C>G (p.Gly138=) c.663C>G (p.Gly221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48792387C>T | CA516357714 | GATA1 | c.414C>T (p.Gly138=) c.663C>T (p.Gly221=) | |
| X | g.48792388C>A | CA412870733 | GATA1 | c.415C>A (p.His139Asn) c.664C>A (p.His222Asn) | |
| X | g.48792388C>G | CA412870729 | GATA1 | c.415C>G (p.His139Asp) c.664C>G (p.His222Asp) | |
| X | g.48792388C>T | CA412870731 | GATA1 | c.415C>T (p.His139Tyr) c.664C>T (p.His222Tyr) | gnomAD v4 |
| X | g.48792389A>C | CA412870736 | GATA1 | c.416A>C (p.His139Pro) c.665A>C (p.His222Pro) | |
| X | g.48792389A>G | CA412870739 | GATA1 | c.416A>G (p.His139Arg) c.665A>G (p.His222Arg) | |
| X | g.48792389A>T | CA412870742 | GATA1 | c.416A>T (p.His139Leu) c.665A>T (p.His222Leu) | |
| X | g.48792390C>A | CA412870743 | GATA1 | c.417C>A (p.His139Gln) c.666C>A (p.His222Gln) | |
| X | g.48792390C>G | CA412870744 | GATA1 | c.417C>G (p.His139Gln) c.666C>G (p.His222Gln) | |
| X | g.48792390C>T | CA516357721 | GATA1 | c.417C>T (p.His139=) c.666C>T (p.His222=) |