Canonical Allele Identifier: CA419384996
Gene: EPS8L3 HGNC NCBI
GSTM5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.110299647G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109757025G>A , CM000663.2:g.109757025G>A GRCh38
NC_000001.10:g.110299647G>A , CM000663.1:g.110299647G>A GRCh37
NC_000001.9:g.110101170G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361965.9:c.1110C>T (EPS8L3) MANE Select ENSP00000355255.4:p.Thr370=
ENST00000361852.8:c.1110C>T (EPS8L3) ENSP00000354551.4:p.Thr370=
ENST00000361965.8:c.1110C>T (EPS8L3) ENSP00000355255.4:p.Thr370=
ENST00000369805.7:c.1113C>T (EPS8L3) ENSP00000358820.3:p.Thr371=
ENST00000429410.2:n.83-18047G>A (GSTM5)
ENST00000472325.5:c.*1079C>T (EPS8L3) ENSP00000483789.1:n.*1079C>T
NM_024526.3:c.1110C>T (EPS8L3) NP_078802.2:p.Thr370=
NM_133181.3:c.1110C>T (EPS8L3) NP_573444.2:p.Thr370=
NM_139053.2:c.1113C>T (EPS8L3) NP_620641.1:p.Thr371=
XM_011542127.1:c.1380C>T (EPS8L3) XP_011540429.1:p.Thr460=
XM_011542128.1:c.1377C>T (EPS8L3) XP_011540430.1:p.Thr459=
XM_011542129.1:c.1356C>T (EPS8L3) XP_011540431.1:p.Thr452=
XM_011542130.1:c.1380C>T (EPS8L3) XP_011540432.1:p.Thr460=
XM_011542131.1:c.1380C>T (EPS8L3) XP_011540433.1:p.Thr460=
XM_011542132.1:c.1137C>T (EPS8L3) XP_011540434.1:p.Thr379=
XM_011542133.1:c.1134C>T (EPS8L3) XP_011540435.1:p.Thr378=
XM_011542134.1:c.1035C>T (EPS8L3) XP_011540436.1:p.Thr345=
XM_011542135.1:c.1035C>T (EPS8L3) XP_011540437.1:p.Thr345=
XM_011542136.1:c.1011C>T (EPS8L3) XP_011540438.1:p.Thr337=
XR_946755.1:n.1558C>T (EPS8L3)
XR_946756.1:n.1559C>T (EPS8L3)
NM_001319952.1:c.1011C>T (EPS8L3) NP_001306881.1:p.Thr337=
XM_011542132.2:c.1137C>T (EPS8L3) XP_011540434.1:p.Thr379=
XM_011542133.2:c.1134C>T (EPS8L3) XP_011540435.1:p.Thr378=
XM_011542134.3:c.1035C>T (EPS8L3) XP_011540436.1:p.Thr345=
XM_011542135.3:c.1035C>T (EPS8L3) XP_011540437.1:p.Thr345=
XM_017002327.2:c.1137C>T (EPS8L3) XP_016857816.1:p.Thr379=
XM_017002328.2:c.1137C>T (EPS8L3) XP_016857817.1:p.Thr379=
XM_017002329.2:c.1113C>T (EPS8L3) XP_016857818.1:p.Thr371=
XR_001737406.2:n.1286C>T (EPS8L3)
XR_001737407.2:n.1286C>T (EPS8L3)
NM_001319952.2:c.1011C>T (EPS8L3) NP_001306881.1:p.Thr337=
NM_024526.4:c.1110C>T (EPS8L3) NP_078802.2:p.Thr370=
NM_133181.4:c.1110C>T (EPS8L3) MANE Select NP_573444.2:p.Thr370=
NM_139053.3:c.1113C>T (EPS8L3) NP_620641.1:p.Thr371=