Canonical Allele Identifier: CA341551205
Gene: EPS8L3 HGNC NCBI
GSTM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109757080G>T , CM000663.2:g.109757080G>T GRCh38
NC_000001.10:g.110299702G>T , CM000663.1:g.110299702G>T GRCh37
NC_000001.9:g.110101225G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361965.9:c.1055C>A (EPS8L3) MANE Select ENSP00000355255.4:p.Ser352Tyr
ENST00000361852.8:c.1055C>A (EPS8L3) ENSP00000354551.4:p.Ser352Tyr
ENST00000361965.8:c.1055C>A (EPS8L3) ENSP00000355255.4:p.Ser352Tyr
ENST00000369805.7:c.1058C>A (EPS8L3) ENSP00000358820.3:p.Ser353Tyr
ENST00000429410.2:n.83-17992G>T (GSTM5)
ENST00000472325.5:c.*1024C>A (EPS8L3) ENSP00000483789.1:n.*1024C>A
NM_024526.3:c.1055C>A (EPS8L3) NP_078802.2:p.Ser352Tyr
NM_133181.3:c.1055C>A (EPS8L3) NP_573444.2:p.Ser352Tyr
NM_139053.2:c.1058C>A (EPS8L3) NP_620641.1:p.Ser353Tyr
XM_011542127.1:c.1325C>A (EPS8L3) XP_011540429.1:p.Ser442Tyr
XM_011542128.1:c.1322C>A (EPS8L3) XP_011540430.1:p.Ser441Tyr
XM_011542129.1:c.1301C>A (EPS8L3) XP_011540431.1:p.Ser434Tyr
XM_011542130.1:c.1325C>A (EPS8L3) XP_011540432.1:p.Ser442Tyr
XM_011542131.1:c.1325C>A (EPS8L3) XP_011540433.1:p.Ser442Tyr
XM_011542132.1:c.1082C>A (EPS8L3) XP_011540434.1:p.Ser361Tyr
XM_011542133.1:c.1079C>A (EPS8L3) XP_011540435.1:p.Ser360Tyr
XM_011542134.1:c.980C>A (EPS8L3) XP_011540436.1:p.Ser327Tyr
XM_011542135.1:c.980C>A (EPS8L3) XP_011540437.1:p.Ser327Tyr
XM_011542136.1:c.956C>A (EPS8L3) XP_011540438.1:p.Ser319Tyr
XR_946755.1:n.1503C>A (EPS8L3)
XR_946756.1:n.1504C>A (EPS8L3)
NM_001319952.1:c.956C>A (EPS8L3) NP_001306881.1:p.Ser319Tyr
XM_011542132.2:c.1082C>A (EPS8L3) XP_011540434.1:p.Ser361Tyr
XM_011542133.2:c.1079C>A (EPS8L3) XP_011540435.1:p.Ser360Tyr
XM_011542134.3:c.980C>A (EPS8L3) XP_011540436.1:p.Ser327Tyr
XM_011542135.3:c.980C>A (EPS8L3) XP_011540437.1:p.Ser327Tyr
XM_017002327.2:c.1082C>A (EPS8L3) XP_016857816.1:p.Ser361Tyr
XM_017002328.2:c.1082C>A (EPS8L3) XP_016857817.1:p.Ser361Tyr
XM_017002329.2:c.1058C>A (EPS8L3) XP_016857818.1:p.Ser353Tyr
XR_001737406.2:n.1231C>A (EPS8L3)
XR_001737407.2:n.1231C>A (EPS8L3)
NM_001319952.2:c.956C>A (EPS8L3) NP_001306881.1:p.Ser319Tyr
NM_024526.4:c.1055C>A (EPS8L3) NP_078802.2:p.Ser352Tyr
NM_133181.4:c.1055C>A (EPS8L3) MANE Select NP_573444.2:p.Ser352Tyr
NM_139053.3:c.1058C>A (EPS8L3) NP_620641.1:p.Ser353Tyr