Canonical Allele Identifier: CA341551180
Gene: EPS8L3 HGNC NCBI
GSTM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109757072T>G , CM000663.2:g.109757072T>G GRCh38
NC_000001.10:g.110299694T>G , CM000663.1:g.110299694T>G GRCh37
NC_000001.9:g.110101217T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361965.9:c.1063A>C (EPS8L3) MANE Select ENSP00000355255.4:p.Ser355Arg
ENST00000361852.8:c.1063A>C (EPS8L3) ENSP00000354551.4:p.Ser355Arg
ENST00000361965.8:c.1063A>C (EPS8L3) ENSP00000355255.4:p.Ser355Arg
ENST00000369805.7:c.1066A>C (EPS8L3) ENSP00000358820.3:p.Ser356Arg
ENST00000429410.2:n.83-18000T>G (GSTM5)
ENST00000472325.5:c.*1032A>C (EPS8L3) ENSP00000483789.1:n.*1032A>C
NM_024526.3:c.1063A>C (EPS8L3) NP_078802.2:p.Ser355Arg
NM_133181.3:c.1063A>C (EPS8L3) NP_573444.2:p.Ser355Arg
NM_139053.2:c.1066A>C (EPS8L3) NP_620641.1:p.Ser356Arg
XM_011542127.1:c.1333A>C (EPS8L3) XP_011540429.1:p.Ser445Arg
XM_011542128.1:c.1330A>C (EPS8L3) XP_011540430.1:p.Ser444Arg
XM_011542129.1:c.1309A>C (EPS8L3) XP_011540431.1:p.Ser437Arg
XM_011542130.1:c.1333A>C (EPS8L3) XP_011540432.1:p.Ser445Arg
XM_011542131.1:c.1333A>C (EPS8L3) XP_011540433.1:p.Ser445Arg
XM_011542132.1:c.1090A>C (EPS8L3) XP_011540434.1:p.Ser364Arg
XM_011542133.1:c.1087A>C (EPS8L3) XP_011540435.1:p.Ser363Arg
XM_011542134.1:c.988A>C (EPS8L3) XP_011540436.1:p.Ser330Arg
XM_011542135.1:c.988A>C (EPS8L3) XP_011540437.1:p.Ser330Arg
XM_011542136.1:c.964A>C (EPS8L3) XP_011540438.1:p.Ser322Arg
XR_946755.1:n.1511A>C (EPS8L3)
XR_946756.1:n.1512A>C (EPS8L3)
NM_001319952.1:c.964A>C (EPS8L3) NP_001306881.1:p.Ser322Arg
XM_011542132.2:c.1090A>C (EPS8L3) XP_011540434.1:p.Ser364Arg
XM_011542133.2:c.1087A>C (EPS8L3) XP_011540435.1:p.Ser363Arg
XM_011542134.3:c.988A>C (EPS8L3) XP_011540436.1:p.Ser330Arg
XM_011542135.3:c.988A>C (EPS8L3) XP_011540437.1:p.Ser330Arg
XM_017002327.2:c.1090A>C (EPS8L3) XP_016857816.1:p.Ser364Arg
XM_017002328.2:c.1090A>C (EPS8L3) XP_016857817.1:p.Ser364Arg
XM_017002329.2:c.1066A>C (EPS8L3) XP_016857818.1:p.Ser356Arg
XR_001737406.2:n.1239A>C (EPS8L3)
XR_001737407.2:n.1239A>C (EPS8L3)
NM_001319952.2:c.964A>C (EPS8L3) NP_001306881.1:p.Ser322Arg
NM_024526.4:c.1063A>C (EPS8L3) NP_078802.2:p.Ser355Arg
NM_133181.4:c.1063A>C (EPS8L3) MANE Select NP_573444.2:p.Ser355Arg
NM_139053.3:c.1066A>C (EPS8L3) NP_620641.1:p.Ser356Arg