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.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 |
| 14 | g.87947759G>C | CA390746434 | GALC | c.1458C>G (p.Phe486Leu) c.1389C>G (p.Phe463Leu) c.1380C>G (p.Phe460Leu) c.1290C>G (p.Phe430Leu) c.825C>G (p.Phe275Leu) c.175C>G c.*856C>G (n.*856C>G) | |
| 14 | g.87947759G>T | CA390746435 | GALC | c.1458C>A (p.Phe486Leu) c.1389C>A (p.Phe463Leu) c.1380C>A (p.Phe460Leu) c.1290C>A (p.Phe430Leu) c.825C>A (p.Phe275Leu) c.175C>A c.*856C>A (n.*856C>A) | |
| 14 | g.87947760A>C | CA390746438 | GALC | c.1457T>G (p.Phe486Cys) c.1388T>G (p.Phe463Cys) c.1379T>G (p.Phe460Cys) c.1289T>G (p.Phe430Cys) c.824T>G (p.Phe275Cys) c.174T>G c.*855T>G (n.*855T>G) | |
| 14 | g.87947760A>G | CA390746437 | GALC | c.1457T>C (p.Phe486Ser) c.1388T>C (p.Phe463Ser) c.1379T>C (p.Phe460Ser) c.1289T>C (p.Phe430Ser) c.824T>C (p.Phe275Ser) c.174T>C c.*855T>C (n.*855T>C) | |
| 14 | g.87947760A>T | CA390746436 | GALC | c.1457T>A (p.Phe486Tyr) c.1388T>A (p.Phe463Tyr) c.1379T>A (p.Phe460Tyr) c.1289T>A (p.Phe430Tyr) c.824T>A (p.Phe275Tyr) c.174T>A c.*855T>A (n.*855T>A) | |
| 14 | g.87947761A>C | CA390746439 | GALC | c.1456T>G (p.Phe486Val) c.1387T>G (p.Phe463Val) c.1378T>G (p.Phe460Val) c.1288T>G (p.Phe430Val) c.823T>G (p.Phe275Val) c.173T>G c.*854T>G (n.*854T>G) | |
| 14 | g.87947761A>G | CA390746440 | GALC | c.1456T>C (p.Phe486Leu) c.1387T>C (p.Phe463Leu) c.1378T>C (p.Phe460Leu) c.1288T>C (p.Phe430Leu) c.823T>C (p.Phe275Leu) c.173T>C c.*854T>C (n.*854T>C) | |
| 14 | g.87947761A>T | CA390746441 | GALC | c.1456T>A (p.Phe486Ile) c.1387T>A (p.Phe463Ile) c.1378T>A (p.Phe460Ile) c.1288T>A (p.Phe430Ile) c.823T>A (p.Phe275Ile) c.173T>A c.*854T>A (n.*854T>A) | |
| 14 | g.87947762G>A | CA487355620 | GALC | c.1455C>T (p.Pro485=) c.1386C>T (p.Pro462=) c.1377C>T (p.Pro459=) c.1287C>T (p.Pro429=) c.822C>T (p.Pro274=) c.172C>T c.*853C>T (n.*853C>T) | |
| 14 | g.87947762G>C | CA487355621 | GALC | c.1455C>G (p.Pro485=) c.1386C>G (p.Pro462=) c.1377C>G (p.Pro459=) c.1287C>G (p.Pro429=) c.822C>G (p.Pro274=) c.172C>G c.*853C>G (n.*853C>G) | |
| 14 | g.87947762G>T | CA487355622 | GALC | c.1455C>A (p.Pro485=) c.1386C>A (p.Pro462=) c.1377C>A (p.Pro459=) c.1287C>A (p.Pro429=) c.822C>A (p.Pro274=) c.172C>A c.*853C>A (n.*853C>A) | |
| 14 | g.87947765_87947769del | CA2580088867 | GALC | c.1451_1455del (p.Gln484LeufsTer6) c.1382_1386del (p.Gln461LeufsTer6) c.1373_1377del (p.Gln458LeufsTer6) c.1283_1287del (p.Gln428LeufsTer6) c.818_822del (p.Gln273LeufsTer6) c.168_172del c.*849_*853del (n.*849_*853del) | ClinVar |
| 14 | g.87947763G>A | CA390746442 | GALC | c.1454C>T (p.Pro485Leu) c.1385C>T (p.Pro462Leu) c.1376C>T (p.Pro459Leu) c.1286C>T (p.Pro429Leu) c.821C>T (p.Pro274Leu) c.171C>T c.*852C>T (n.*852C>T) | |
| 14 | g.87947763G>C | CA390746443 | GALC | c.1454C>G (p.Pro485Arg) c.1385C>G (p.Pro462Arg) c.1376C>G (p.Pro459Arg) c.1286C>G (p.Pro429Arg) c.821C>G (p.Pro274Arg) c.171C>G c.*852C>G (n.*852C>G) | |
| 14 | g.87947763G>T | CA390746444 | GALC | c.1454C>A (p.Pro485His) c.1385C>A (p.Pro462His) c.1376C>A (p.Pro459His) c.1286C>A (p.Pro429His) c.821C>A (p.Pro274His) c.171C>A c.*852C>A (n.*852C>A) | |
| 14 | g.87947764G>A | CA7297012 | GALC | c.1453C>T (p.Pro485Ser) c.1384C>T (p.Pro462Ser) c.1375C>T (p.Pro459Ser) c.1285C>T (p.Pro429Ser) c.820C>T (p.Pro274Ser) c.170C>T c.*851C>T (n.*851C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |