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.87947849_87947850del | CA2573150294 | GALC | c.1367_1368del (p.Leu456GlnfsTer4) c.1298_1299del (p.Leu433GlnfsTer4) c.1289_1290del (p.Leu430GlnfsTer4) c.1199_1200del (p.Leu400GlnfsTer4) c.734_735del (p.Leu245GlnfsTer4) c.84_85del c.*765_*766del (n.*765_*766del) | ClinVar dbSNP |
| 14 | g.87947850A>C | CA390746623 | GALC | c.1367T>G (p.Leu456Arg) c.1298T>G (p.Leu433Arg) c.1289T>G (p.Leu430Arg) c.1199T>G (p.Leu400Arg) c.734T>G (p.Leu245Arg) c.84T>G c.*765T>G (n.*765T>G) | |
| 14 | g.87947850A>G | CA390746621 | GALC | c.1367T>C (p.Leu456Pro) c.1298T>C (p.Leu433Pro) c.1289T>C (p.Leu430Pro) c.1199T>C (p.Leu400Pro) c.734T>C (p.Leu245Pro) c.84T>C c.*765T>C (n.*765T>C) | ClinVar gnomAD v4 |
| 14 | g.87947850A>T | CA390746622 | GALC | c.1367T>A (p.Leu456Gln) c.1298T>A (p.Leu433Gln) c.1289T>A (p.Leu430Gln) c.1199T>A (p.Leu400Gln) c.734T>A (p.Leu245Gln) c.84T>A c.*765T>A (n.*765T>A) | gnomAD v4 |
| 14 | g.87947850_87947851insCACT | CA2530080412 | GALC | c.1366_1367insAGTG (p.Leu456GlnfsTer6) c.1297_1298insAGTG (p.Leu433GlnfsTer6) c.1288_1289insAGTG (p.Leu430GlnfsTer6) c.1198_1199insAGTG (p.Leu400GlnfsTer6) c.733_734insAGTG (p.Leu245GlnfsTer6) c.83_84insAGTG c.*764_*765insAGTG (n.*764_*765insAGTG) | gnomAD v4 |
| 14 | g.87947851G>A | CA487355687 | GALC | c.1366C>T (p.Leu456=) c.1297C>T (p.Leu433=) c.1288C>T (p.Leu430=) c.1198C>T (p.Leu400=) c.733C>T (p.Leu245=) c.83C>T c.*764C>T (n.*764C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947851G>C | CA390746624 | GALC | c.1366C>G (p.Leu456Val) c.1297C>G (p.Leu433Val) c.1288C>G (p.Leu430Val) c.1198C>G (p.Leu400Val) c.733C>G (p.Leu245Val) c.83C>G c.*764C>G (n.*764C>G) | ClinVar gnomAD v4 |
| 14 | g.87947851G>T | CA390746625 | GALC | c.1366C>A (p.Leu456Met) c.1297C>A (p.Leu433Met) c.1288C>A (p.Leu430Met) c.1198C>A (p.Leu400Met) c.733C>A (p.Leu245Met) c.83C>A c.*764C>A (n.*764C>A) | |
| 14 | g.87947854_87947855del | CA2580612784 | GALC | c.1365_1366del (p.Leu456GlufsTer4) c.1296_1297del (p.Leu433GlufsTer4) c.1287_1288del (p.Leu430GlufsTer4) c.1197_1198del (p.Leu400GlufsTer4) c.732_733del (p.Leu245GlufsTer4) c.82_83del c.*763_*764del (n.*763_*764del) | ClinVar |
| 14 | g.87947851_87947852insAGCC | CA2508350337 | GALC | c.1365_1366insGGCT (p.Leu456GlyfsTer6) c.1296_1297insGGCT (p.Leu433GlyfsTer6) c.1287_1288insGGCT (p.Leu430GlyfsTer6) c.1197_1198insGGCT (p.Leu400GlyfsTer6) c.732_733insGGCT (p.Leu245GlyfsTer6) c.82_83insGGCT c.*763_*764insGGCT (n.*763_*764insGGCT) | gnomAD v4 |
| 14 | g.87947852T>A | CA487355688 | GALC | c.1365A>T (p.Thr455=) c.1296A>T (p.Thr432=) c.1287A>T (p.Thr429=) c.1197A>T (p.Thr399=) c.732A>T (p.Thr244=) c.82A>T c.*763A>T (n.*763A>T) | |
| 14 | g.87947852T>C | CA487355690 | GALC | c.1365A>G (p.Thr455=) c.1296A>G (p.Thr432=) c.1287A>G (p.Thr429=) c.1197A>G (p.Thr399=) c.732A>G (p.Thr244=) c.82A>G c.*763A>G (n.*763A>G) | |
| 14 | g.87947852T>G | CA487355689 | GALC | c.1365A>C (p.Thr455=) c.1296A>C (p.Thr432=) c.1287A>C (p.Thr429=) c.1197A>C (p.Thr399=) c.732A>C (p.Thr244=) c.82A>C c.*763A>C (n.*763A>C) | dbSNP |
| 14 | g.87947852T= | CA2153358908 | GALC | c.1365A= (p.Thr455=) c.1296A= (p.Thr432=) c.1287A= (p.Thr429=) c.1197A= (p.Thr399=) c.732A= (p.Thr244=) c.82A= c.*763A= (n.*763A=) | |
| 14 | g.87947853G>A | CA390746626 | GALC | c.1364C>T (p.Thr455Ile) c.1295C>T (p.Thr432Ile) c.1286C>T (p.Thr429Ile) c.1196C>T (p.Thr399Ile) c.731C>T (p.Thr244Ile) c.81C>T c.*762C>T (n.*762C>T) | ClinVar gnomAD v4 |
| 14 | g.87947853G>C | CA390746627 | GALC | c.1364C>G (p.Thr455Arg) c.1295C>G (p.Thr432Arg) c.1286C>G (p.Thr429Arg) c.1196C>G (p.Thr399Arg) c.731C>G (p.Thr244Arg) c.81C>G c.*762C>G (n.*762C>G) | |
| 14 | g.87947853G>T | CA390746628 | GALC | c.1364C>A (p.Thr455Lys) c.1295C>A (p.Thr432Lys) c.1286C>A (p.Thr429Lys) c.1196C>A (p.Thr399Lys) c.731C>A (p.Thr244Lys) c.81C>A c.*762C>A (n.*762C>A) | |
| 14 | g.87947853_87947854insCA | CA2515688043 | GALC | c.1363_1364insTG (p.Thr455MetfsTer3) c.1294_1295insTG (p.Thr432MetfsTer3) c.1285_1286insTG (p.Thr429MetfsTer3) c.1195_1196insTG (p.Thr399MetfsTer3) c.730_731insTG (p.Thr244MetfsTer3) c.80_81insTG c.*761_*762insTG (n.*761_*762insTG) | gnomAD v4 |
| 14 | g.87947854T>A | CA390746629 | GALC | c.1363A>T (p.Thr455Ser) c.1294A>T (p.Thr432Ser) c.1285A>T (p.Thr429Ser) c.1195A>T (p.Thr399Ser) c.730A>T (p.Thr244Ser) c.80A>T c.*761A>T (n.*761A>T) | |
| 14 | g.87947854T>C | CA390746630 | GALC | c.1363A>G (p.Thr455Ala) c.1294A>G (p.Thr432Ala) c.1285A>G (p.Thr429Ala) c.1195A>G (p.Thr399Ala) c.730A>G (p.Thr244Ala) c.80A>G c.*761A>G (n.*761A>G) | |
| 14 | g.87947854T>G | CA390746631 | GALC | c.1363A>C (p.Thr455Pro) c.1294A>C (p.Thr432Pro) c.1285A>C (p.Thr429Pro) c.1195A>C (p.Thr399Pro) c.730A>C (p.Thr244Pro) c.80A>C c.*761A>C (n.*761A>C) | |
| 14 | g.87947855G>A | CA487355691 | GALC | c.1362C>T (p.Phe454=) c.1293C>T (p.Phe431=) c.1284C>T (p.Phe428=) c.1194C>T (p.Phe398=) c.729C>T (p.Phe243=) c.79C>T c.*760C>T (n.*760C>T) | ClinVar dbSNP |
| 14 | g.87947855G>C | CA390746632 | GALC | c.1362C>G (p.Phe454Leu) c.1293C>G (p.Phe431Leu) c.1284C>G (p.Phe428Leu) c.1194C>G (p.Phe398Leu) c.729C>G (p.Phe243Leu) c.79C>G c.*760C>G (n.*760C>G) | gnomAD v4 |
| 14 | g.87947855G>T | CA390746633 | GALC | c.1362C>A (p.Phe454Leu) c.1293C>A (p.Phe431Leu) c.1284C>A (p.Phe428Leu) c.1194C>A (p.Phe398Leu) c.729C>A (p.Phe243Leu) c.79C>A c.*760C>A (n.*760C>A) | |
| 14 | g.87947856A>C | CA390746634 | GALC | c.1361T>G (p.Phe454Cys) c.1292T>G (p.Phe431Cys) c.1283T>G (p.Phe428Cys) c.1193T>G (p.Phe398Cys) c.728T>G (p.Phe243Cys) c.78T>G c.*759T>G (n.*759T>G) | |
| 14 | g.87947856A>G | CA390746635 | GALC | c.1361T>C (p.Phe454Ser) c.1292T>C (p.Phe431Ser) c.1283T>C (p.Phe428Ser) c.1193T>C (p.Phe398Ser) c.728T>C (p.Phe243Ser) c.78T>C c.*759T>C (n.*759T>C) | |
| 14 | g.87947856A>T | CA390746636 | GALC | c.1361T>A (p.Phe454Tyr) c.1292T>A (p.Phe431Tyr) c.1283T>A (p.Phe428Tyr) c.1193T>A (p.Phe398Tyr) c.728T>A (p.Phe243Tyr) c.78T>A c.*759T>A (n.*759T>A) | |
| 14 | g.87947858dup | CA2575595088 | GALC | c.1361dup (p.Thr455HisfsTer6) c.1292dup (p.Thr432HisfsTer6) c.1283dup (p.Thr429HisfsTer6) c.1193dup (p.Thr399HisfsTer6) c.728dup (p.Thr244HisfsTer6) c.78dup c.*759dup (n.*759dup) | ClinVar gnomAD v4 |
| 14 | g.87947857A>C | CA390746638 | GALC | c.1360T>G (p.Phe454Val) c.1291T>G (p.Phe431Val) c.1282T>G (p.Phe428Val) c.1192T>G (p.Phe398Val) c.727T>G (p.Phe243Val) c.77T>G c.*758T>G (n.*758T>G) | |
| 14 | g.87947857A>G | CA390746639 | GALC | c.1360T>C (p.Phe454Leu) c.1291T>C (p.Phe431Leu) c.1282T>C (p.Phe428Leu) c.1192T>C (p.Phe398Leu) c.727T>C (p.Phe243Leu) c.77T>C c.*758T>C (n.*758T>C) | |
| 14 | g.87947857A>T | CA390746637 | GALC | c.1360T>A (p.Phe454Ile) c.1291T>A (p.Phe431Ile) c.1282T>A (p.Phe428Ile) c.1192T>A (p.Phe398Ile) c.727T>A (p.Phe243Ile) c.77T>A c.*758T>A (n.*758T>A) | |
| 14 | g.87947858A>C | CA390746640 | GALC | c.1359T>G (p.Ser453Arg) c.1290T>G (p.Ser430Arg) c.1281T>G (p.Ser427Arg) c.1191T>G (p.Ser397Arg) c.726T>G (p.Ser242Arg) c.76T>G c.*757T>G (n.*757T>G) | |
| 14 | g.87947858A>G | CA487355692 | GALC | c.1359T>C (p.Ser453=) c.1290T>C (p.Ser430=) c.1281T>C (p.Ser427=) c.1191T>C (p.Ser397=) c.726T>C (p.Ser242=) c.76T>C c.*757T>C (n.*757T>C) | ClinVar |
| 14 | g.87947858A>T | CA390746641 | GALC | c.1359T>A (p.Ser453Arg) c.1290T>A (p.Ser430Arg) c.1281T>A (p.Ser427Arg) c.1191T>A (p.Ser397Arg) c.726T>A (p.Ser242Arg) c.76T>A c.*757T>A (n.*757T>A) | |
| 14 | g.87947859C>A | CA390746642 | GALC | c.1358G>T (p.Ser453Ile) c.1289G>T (p.Ser430Ile) c.1280G>T (p.Ser427Ile) c.1190G>T (p.Ser397Ile) c.725G>T (p.Ser242Ile) c.75G>T c.*756G>T (n.*756G>T) | ClinVar dbSNP |
| 14 | g.87947859C>G | CA390746644 | GALC | c.1358G>C (p.Ser453Thr) c.1289G>C (p.Ser430Thr) c.1280G>C (p.Ser427Thr) c.1190G>C (p.Ser397Thr) c.725G>C (p.Ser242Thr) c.75G>C c.*756G>C (n.*756G>C) | |
| 14 | g.87947859C>T | CA390746643 | GALC | c.1358G>A (p.Ser453Asn) c.1289G>A (p.Ser430Asn) c.1280G>A (p.Ser427Asn) c.1190G>A (p.Ser397Asn) c.725G>A (p.Ser242Asn) c.75G>A c.*756G>A (n.*756G>A) | |
| 14 | g.87947860T>A | CA390746645 | GALC | c.1357A>T (p.Ser453Cys) c.1288A>T (p.Ser430Cys) c.1279A>T (p.Ser427Cys) c.1189A>T (p.Ser397Cys) c.724A>T (p.Ser242Cys) c.74A>T c.*755A>T (n.*755A>T) | |
| 14 | g.87947860T>C | CA390746646 | GALC | c.1357A>G (p.Ser453Gly) c.1288A>G (p.Ser430Gly) c.1279A>G (p.Ser427Gly) c.1189A>G (p.Ser397Gly) c.724A>G (p.Ser242Gly) c.74A>G c.*755A>G (n.*755A>G) | dbSNP gnomAD v4 |
| 14 | g.87947860T>G | CA390746647 | GALC | c.1357A>C (p.Ser453Arg) c.1288A>C (p.Ser430Arg) c.1279A>C (p.Ser427Arg) c.1189A>C (p.Ser397Arg) c.724A>C (p.Ser242Arg) c.74A>C c.*755A>C (n.*755A>C) | |
| 14 | g.87947860T= | CA2153358910 | GALC | c.1357A= (p.Ser453=) c.1288A= (p.Ser430=) c.1279A= (p.Ser427=) c.1189A= (p.Ser397=) c.724A= (p.Ser242=) c.74A= c.*755A= (n.*755A=) | |
| 14 | g.87947861G>A | CA487355695 | GALC | c.1356C>T (p.Gly452=) c.1287C>T (p.Gly429=) c.1278C>T (p.Gly426=) c.1188C>T (p.Gly396=) c.723C>T (p.Gly241=) c.73C>T c.*754C>T (n.*754C>T) | gnomAD v4 |
| 14 | g.87947861G>C | CA487355693 | GALC | c.1356C>G (p.Gly452=) c.1287C>G (p.Gly429=) c.1278C>G (p.Gly426=) c.1188C>G (p.Gly396=) c.723C>G (p.Gly241=) c.73C>G c.*754C>G (n.*754C>G) | |
| 14 | g.87947861G>T | CA487355694 | GALC | c.1356C>A (p.Gly452=) c.1287C>A (p.Gly429=) c.1278C>A (p.Gly426=) c.1188C>A (p.Gly396=) c.723C>A (p.Gly241=) c.73C>A c.*754C>A (n.*754C>A) | |
| 14 | g.87947862C>A | CA390746648 | GALC | c.1355G>T (p.Gly452Val) c.1286G>T (p.Gly429Val) c.1277G>T (p.Gly426Val) c.1187G>T (p.Gly396Val) c.722G>T (p.Gly241Val) c.72G>T c.*753G>T (n.*753G>T) | |
| 14 | g.87947862C= | CA2153358916 | GALC | c.1355G= (p.Gly452=) c.1286G= (p.Gly429=) c.1277G= (p.Gly426=) c.1187G= (p.Gly396=) c.722G= (p.Gly241=) c.72G= c.*753G= (n.*753G=) | |
| 14 | g.87947862C>G | CA390746649 | GALC | c.1355G>C (p.Gly452Ala) c.1286G>C (p.Gly429Ala) c.1277G>C (p.Gly426Ala) c.1187G>C (p.Gly396Ala) c.722G>C (p.Gly241Ala) c.72G>C c.*753G>C (n.*753G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87947862C>T | CA16603289 | GALC | c.1355G>A (p.Gly452Asp) c.1286G>A (p.Gly429Asp) c.1277G>A (p.Gly426Asp) c.1187G>A (p.Gly396Asp) c.722G>A (p.Gly241Asp) c.72G>A c.*753G>A (n.*753G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947863C>A | CA390746650 | GALC | c.1354G>T (p.Gly452Cys) c.1285G>T (p.Gly429Cys) c.1276G>T (p.Gly426Cys) c.1186G>T (p.Gly396Cys) c.721G>T (p.Gly241Cys) c.71G>T c.*752G>T (n.*752G>T) | |
| 14 | g.87947863C>G | CA390746651 | GALC | c.1354G>C (p.Gly452Arg) c.1285G>C (p.Gly429Arg) c.1276G>C (p.Gly426Arg) c.1186G>C (p.Gly396Arg) c.721G>C (p.Gly241Arg) c.71G>C c.*752G>C (n.*752G>C) |