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.87947746del | CA274007 | GALC | c.1472del (p.Lys491ArgfsTer?) c.1403del (p.Lys468ArgfsTer?) c.1394del (p.Lys465ArgfsTer?) c.1304del (p.Lys435ArgfsTer?) c.839del (p.Lys280ArgfsTer?) c.189del c.*870del (n.*870del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87947746T>A | CA390746409 | GALC | c.1471A>T (p.Lys491Ter) c.1402A>T (p.Lys468Ter) c.1393A>T (p.Lys465Ter) c.1303A>T (p.Lys435Ter) c.838A>T (p.Lys280Ter) c.188A>T c.*869A>T (n.*869A>T) | |
| 14 | g.87947746T>C | CA390746407 | GALC | c.1471A>G (p.Lys491Glu) c.1402A>G (p.Lys468Glu) c.1393A>G (p.Lys465Glu) c.1303A>G (p.Lys435Glu) c.838A>G (p.Lys280Glu) c.188A>G c.*869A>G (n.*869A>G) | |
| 14 | g.87947746T>G | CA390746408 | GALC | c.1471A>C (p.Lys491Gln) c.1402A>C (p.Lys468Gln) c.1393A>C (p.Lys465Gln) c.1303A>C (p.Lys435Gln) c.838A>C (p.Lys280Gln) c.188A>C c.*869A>C (n.*869A>C) | |
| 14 | g.87947746_87947747delinsTA | CA2153358762 | GALC | c.1470_1471delinsTA (p.Tyr490=) c.1401_1402delinsTA (p.Tyr467=) c.1392_1393delinsTA (p.Tyr464=) c.1302_1303delinsTA (p.Tyr434=) c.837_838delinsTA (p.Tyr279=) c.187_188delinsTA c.*868_*869delinsTA (n.*868_*869delinsTA) | |
| 14 | g.87947747del | CA615271327 | GALC | c.1470del (p.Tyr490Ter) c.1401del (p.Tyr467Ter) c.1392del (p.Tyr464Ter) c.1302del (p.Tyr434Ter) c.837del (p.Tyr279Ter) c.187del c.*868del (n.*868del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947747A>C | CA390746410 | GALC | c.1470T>G (p.Tyr490Ter) c.1401T>G (p.Tyr467Ter) c.1392T>G (p.Tyr464Ter) c.1302T>G (p.Tyr434Ter) c.837T>G (p.Tyr279Ter) c.187T>G c.*868T>G (n.*868T>G) | |
| 14 | g.87947747A>G | CA487355611 | GALC | c.1470T>C (p.Tyr490=) c.1401T>C (p.Tyr467=) c.1392T>C (p.Tyr464=) c.1302T>C (p.Tyr434=) c.837T>C (p.Tyr279=) c.187T>C c.*868T>C (n.*868T>C) | |
| 14 | g.87947747A>T | CA390746411 | GALC | c.1470T>A (p.Tyr490Ter) c.1401T>A (p.Tyr467Ter) c.1392T>A (p.Tyr464Ter) c.1302T>A (p.Tyr434Ter) c.837T>A (p.Tyr279Ter) c.187T>A c.*868T>A (n.*868T>A) | |
| 14 | g.87947748T>A | CA390746412 | GALC | c.1469A>T (p.Tyr490Phe) c.1400A>T (p.Tyr467Phe) c.1391A>T (p.Tyr464Phe) c.1301A>T (p.Tyr434Phe) c.836A>T (p.Tyr279Phe) c.186A>T c.*867A>T (n.*867A>T) | |
| 14 | g.87947748T>C | CA390746413 | GALC | c.1469A>G (p.Tyr490Cys) c.1400A>G (p.Tyr467Cys) c.1391A>G (p.Tyr464Cys) c.1301A>G (p.Tyr434Cys) c.836A>G (p.Tyr279Cys) c.186A>G c.*867A>G (n.*867A>G) | ClinVar gnomAD v4 |
| 14 | g.87947748T>G | CA390746414 | GALC | c.1469A>C (p.Tyr490Ser) c.1400A>C (p.Tyr467Ser) c.1391A>C (p.Tyr464Ser) c.1301A>C (p.Tyr434Ser) c.836A>C (p.Tyr279Ser) c.186A>C c.*867A>C (n.*867A>C) | |
| 14 | g.87947749A= | CA2153358766 | GALC | c.1468T= (p.Tyr490=) c.1399T= (p.Tyr467=) c.1390T= (p.Tyr464=) c.1300T= (p.Tyr434=) c.835T= (p.Tyr279=) c.185T= c.*866T= (n.*866T=) | |
| 14 | g.87947749A>C | CA390746416 | GALC | c.1468T>G (p.Tyr490Asp) c.1399T>G (p.Tyr467Asp) c.1390T>G (p.Tyr464Asp) c.1300T>G (p.Tyr434Asp) c.835T>G (p.Tyr279Asp) c.185T>G c.*866T>G (n.*866T>G) | ClinVar |
| 14 | g.87947749A>G | CA390746415 | GALC | c.1468T>C (p.Tyr490His) c.1399T>C (p.Tyr467His) c.1390T>C (p.Tyr464His) c.1300T>C (p.Tyr434His) c.835T>C (p.Tyr279His) c.185T>C c.*866T>C (n.*866T>C) | |
| 14 | g.87947749A>T | CA264685589 | GALC | c.1468T>A (p.Tyr490Asn) c.1399T>A (p.Tyr467Asn) c.1390T>A (p.Tyr464Asn) c.1300T>A (p.Tyr434Asn) c.835T>A (p.Tyr279Asn) c.185T>A c.*866T>A (n.*866T>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947750G>A | CA487355612 | GALC | c.1467C>T (p.Thr489=) c.1398C>T (p.Thr466=) c.1389C>T (p.Thr463=) c.1299C>T (p.Thr433=) c.834C>T (p.Thr278=) c.184C>T c.*865C>T (n.*865C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947750G>C | CA487355613 | GALC | c.1467C>G (p.Thr489=) c.1398C>G (p.Thr466=) c.1389C>G (p.Thr463=) c.1299C>G (p.Thr433=) c.834C>G (p.Thr278=) c.184C>G c.*865C>G (n.*865C>G) | |
| 14 | g.87947750G= | CA2153358769 | GALC | c.1467C= (p.Thr489=) c.1398C= (p.Thr466=) c.1389C= (p.Thr463=) c.1299C= (p.Thr433=) c.834C= (p.Thr278=) c.184C= c.*865C= (n.*865C=) | |
| 14 | g.87947750G>T | CA487355614 | GALC | c.1467C>A (p.Thr489=) c.1398C>A (p.Thr466=) c.1389C>A (p.Thr463=) c.1299C>A (p.Thr433=) c.834C>A (p.Thr278=) c.184C>A c.*865C>A (n.*865C>A) | gnomAD v4 |
| 14 | g.87947751G>A | CA390746417 | GALC | c.1466C>T (p.Thr489Ile) c.1397C>T (p.Thr466Ile) c.1388C>T (p.Thr463Ile) c.1298C>T (p.Thr433Ile) c.833C>T (p.Thr278Ile) c.183C>T c.*864C>T (n.*864C>T) | |
| 14 | g.87947751G>C | CA390746418 | GALC | c.1466C>G (p.Thr489Ser) c.1397C>G (p.Thr466Ser) c.1388C>G (p.Thr463Ser) c.1298C>G (p.Thr433Ser) c.833C>G (p.Thr278Ser) c.183C>G c.*864C>G (n.*864C>G) | |
| 14 | g.87947751G>T | CA390746419 | GALC | c.1466C>A (p.Thr489Asn) c.1397C>A (p.Thr466Asn) c.1388C>A (p.Thr463Asn) c.1298C>A (p.Thr433Asn) c.833C>A (p.Thr278Asn) c.183C>A c.*864C>A (n.*864C>A) | |
| 14 | g.87947752T>A | CA390746420 | GALC | c.1465A>T (p.Thr489Ser) c.1396A>T (p.Thr466Ser) c.1387A>T (p.Thr463Ser) c.1297A>T (p.Thr433Ser) c.832A>T (p.Thr278Ser) c.182A>T c.*863A>T (n.*863A>T) | |
| 14 | g.87947752T>C | CA7297011 | GALC | c.1465A>G (p.Thr489Ala) c.1396A>G (p.Thr466Ala) c.1387A>G (p.Thr463Ala) c.1297A>G (p.Thr433Ala) c.832A>G (p.Thr278Ala) c.182A>G c.*863A>G (n.*863A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947752T>G | CA390746421 | GALC | c.1465A>C (p.Thr489Pro) c.1396A>C (p.Thr466Pro) c.1387A>C (p.Thr463Pro) c.1297A>C (p.Thr433Pro) c.832A>C (p.Thr278Pro) c.182A>C c.*863A>C (n.*863A>C) | |
| 14 | g.87947752T= | CA2153358770 | GALC | c.1465A= (p.Thr489=) c.1396A= (p.Thr466=) c.1387A= (p.Thr463=) c.1297A= (p.Thr433=) c.832A= (p.Thr278=) c.182A= c.*863A= (n.*863A=) | |
| 14 | g.87947752dup | CA2573150292 | GALC | c.1465dup (p.Thr489AsnfsTer3) c.1396dup (p.Thr466AsnfsTer3) c.1387dup (p.Thr463AsnfsTer3) c.1297dup (p.Thr433AsnfsTer3) c.832dup (p.Thr278AsnfsTer3) c.182dup c.*863dup (n.*863dup) | ClinVar dbSNP |
| 14 | g.87947753A>C | CA390746423 | GALC | c.1464T>G (p.Ser488Arg) c.1395T>G (p.Ser465Arg) c.1386T>G (p.Ser462Arg) c.1296T>G (p.Ser432Arg) c.831T>G (p.Ser277Arg) c.181T>G c.*862T>G (n.*862T>G) | |
| 14 | g.87947753A>G | CA487355615 | GALC | c.1464T>C (p.Ser488=) c.1395T>C (p.Ser465=) c.1386T>C (p.Ser462=) c.1296T>C (p.Ser432=) c.831T>C (p.Ser277=) c.181T>C c.*862T>C (n.*862T>C) | ClinVar |
| 14 | g.87947753A>T | CA390746422 | GALC | c.1464T>A (p.Ser488Arg) c.1395T>A (p.Ser465Arg) c.1386T>A (p.Ser462Arg) c.1296T>A (p.Ser432Arg) c.831T>A (p.Ser277Arg) c.181T>A c.*862T>A (n.*862T>A) | |
| 14 | g.87947754C>A | CA390746424 | GALC | c.1463G>T (p.Ser488Ile) c.1394G>T (p.Ser465Ile) c.1385G>T (p.Ser462Ile) c.1295G>T (p.Ser432Ile) c.830G>T (p.Ser277Ile) c.180G>T c.*861G>T (n.*861G>T) | |
| 14 | g.87947754C= | CA2153358772 | GALC | c.1463G= (p.Ser488=) c.1394G= (p.Ser465=) c.1385G= (p.Ser462=) c.1295G= (p.Ser432=) c.830G= (p.Ser277=) c.180G= c.*861G= (n.*861G=) | |
| 14 | g.87947754C>G | CA390746425 | GALC | c.1463G>C (p.Ser488Thr) c.1394G>C (p.Ser465Thr) c.1385G>C (p.Ser462Thr) c.1295G>C (p.Ser432Thr) c.830G>C (p.Ser277Thr) c.180G>C c.*861G>C (n.*861G>C) | |
| 14 | g.87947754C>T | CA264685595 | GALC | c.1463G>A (p.Ser488Asn) c.1394G>A (p.Ser465Asn) c.1385G>A (p.Ser462Asn) c.1295G>A (p.Ser432Asn) c.830G>A (p.Ser277Asn) c.180G>A c.*861G>A (n.*861G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947755T>A | CA390746426 | GALC | c.1462A>T (p.Ser488Cys) c.1393A>T (p.Ser465Cys) c.1384A>T (p.Ser462Cys) c.1294A>T (p.Ser432Cys) c.829A>T (p.Ser277Cys) c.179A>T c.*860A>T (n.*860A>T) | |
| 14 | g.87947755T>C | CA390746427 | GALC | c.1462A>G (p.Ser488Gly) c.1393A>G (p.Ser465Gly) c.1384A>G (p.Ser462Gly) c.1294A>G (p.Ser432Gly) c.829A>G (p.Ser277Gly) c.179A>G c.*860A>G (n.*860A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947755T>G | CA390746428 | GALC | c.1462A>C (p.Ser488Arg) c.1393A>C (p.Ser465Arg) c.1384A>C (p.Ser462Arg) c.1294A>C (p.Ser432Arg) c.829A>C (p.Ser277Arg) c.179A>C c.*860A>C (n.*860A>C) | |
| 14 | g.87947755T= | CA2153358773 | GALC | c.1462A= (p.Ser488=) c.1393A= (p.Ser465=) c.1384A= (p.Ser462=) c.1294A= (p.Ser432=) c.829A= (p.Ser277=) c.179A= c.*860A= (n.*860A=) | |
| 14 | g.87947756T>A | CA487355616 | GALC | c.1461A>T (p.Pro487=) c.1392A>T (p.Pro464=) c.1383A>T (p.Pro461=) c.1293A>T (p.Pro431=) c.828A>T (p.Pro276=) c.178A>T c.*859A>T (n.*859A>T) | |
| 14 | g.87947756T>C | CA487355617 | GALC | c.1461A>G (p.Pro487=) c.1392A>G (p.Pro464=) c.1383A>G (p.Pro461=) c.1293A>G (p.Pro431=) c.828A>G (p.Pro276=) c.178A>G c.*859A>G (n.*859A>G) | gnomAD v4 |
| 14 | g.87947756T>G | CA487355618 | GALC | c.1461A>C (p.Pro487=) c.1392A>C (p.Pro464=) c.1383A>C (p.Pro461=) c.1293A>C (p.Pro431=) c.828A>C (p.Pro276=) c.178A>C c.*859A>C (n.*859A>C) | |
| 14 | g.87947757G>A | CA264685596 | GALC | c.1460C>T (p.Pro487Leu) c.1391C>T (p.Pro464Leu) c.1382C>T (p.Pro461Leu) c.1292C>T (p.Pro431Leu) c.827C>T (p.Pro276Leu) c.177C>T c.*858C>T (n.*858C>T) | ClinVar dbSNP |
| 14 | g.87947757G>C | CA390746430 | GALC | c.1460C>G (p.Pro487Arg) c.1391C>G (p.Pro464Arg) c.1382C>G (p.Pro461Arg) c.1292C>G (p.Pro431Arg) c.827C>G (p.Pro276Arg) c.177C>G c.*858C>G (n.*858C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947757G= | CA2153358774 | GALC | c.1460C= (p.Pro487=) c.1391C= (p.Pro464=) c.1382C= (p.Pro461=) c.1292C= (p.Pro431=) c.827C= (p.Pro276=) c.177C= c.*858C= (n.*858C=) | |
| 14 | g.87947757G>T | CA390746429 | GALC | c.1460C>A (p.Pro487Gln) c.1391C>A (p.Pro464Gln) c.1382C>A (p.Pro461Gln) c.1292C>A (p.Pro431Gln) c.827C>A (p.Pro276Gln) c.177C>A c.*858C>A (n.*858C>A) | |
| 14 | g.87947758G>A | CA390746431 | GALC | c.1459C>T (p.Pro487Ser) c.1390C>T (p.Pro464Ser) c.1381C>T (p.Pro461Ser) c.1291C>T (p.Pro431Ser) c.826C>T (p.Pro276Ser) c.176C>T c.*857C>T (n.*857C>T) | ClinVar |
| 14 | g.87947758G>C | CA390746432 | GALC | c.1459C>G (p.Pro487Ala) c.1390C>G (p.Pro464Ala) c.1381C>G (p.Pro461Ala) c.1291C>G (p.Pro431Ala) c.826C>G (p.Pro276Ala) c.176C>G c.*857C>G (n.*857C>G) | |
| 14 | g.87947758G>T | CA390746433 | GALC | c.1459C>A (p.Pro487Thr) c.1390C>A (p.Pro464Thr) c.1381C>A (p.Pro461Thr) c.1291C>A (p.Pro431Thr) c.826C>A (p.Pro276Thr) c.176C>A c.*857C>A (n.*857C>A) | |
| 14 | g.87947759G>A | CA487355619 | GALC | c.1458C>T (p.Phe486=) c.1389C>T (p.Phe463=) c.1380C>T (p.Phe460=) c.1290C>T (p.Phe430=) c.825C>T (p.Phe275=) c.175C>T c.*856C>T (n.*856C>T) | gnomAD v4 |