Canonical Allele Identifier: CA419384955

Gene: EPS8L3 GSTM5

Linked Data

• gnomAD v4: 1-109757019-G-A
• MyVariant Identifiers: chr1:g.110299641G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109757019G>A , CM000663.2:g.109757019G>A	GRCh38
NC_000001.10:g.110299641G>A , CM000663.1:g.110299641G>A	GRCh37
NC_000001.9:g.110101164G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361965.9:c.1116C>T (EPS8L3) MANE Select	ENSP00000355255.4:p.Ser372=
ENST00000361852.8:c.1116C>T (EPS8L3)	ENSP00000354551.4:p.Ser372=
ENST00000361965.8:c.1116C>T (EPS8L3)	ENSP00000355255.4:p.Ser372=
ENST00000369805.7:c.1119C>T (EPS8L3)	ENSP00000358820.3:p.Ser373=
ENST00000429410.2:n.83-18053G>A (GSTM5)
ENST00000472325.5:c.*1085C>T (EPS8L3)	ENSP00000483789.1:n.*1085C>T
NM_024526.3:c.1116C>T (EPS8L3)	NP_078802.2:p.Ser372=
NM_133181.3:c.1116C>T (EPS8L3)	NP_573444.2:p.Ser372=
NM_139053.2:c.1119C>T (EPS8L3)	NP_620641.1:p.Ser373=
XM_011542127.1:c.1386C>T (EPS8L3)	XP_011540429.1:p.Ser462=
XM_011542128.1:c.1383C>T (EPS8L3)	XP_011540430.1:p.Ser461=
XM_011542129.1:c.1362C>T (EPS8L3)	XP_011540431.1:p.Ser454=
XM_011542130.1:c.1386C>T (EPS8L3)	XP_011540432.1:p.Ser462=
XM_011542131.1:c.1386C>T (EPS8L3)	XP_011540433.1:p.Ser462=
XM_011542132.1:c.1143C>T (EPS8L3)	XP_011540434.1:p.Ser381=
XM_011542133.1:c.1140C>T (EPS8L3)	XP_011540435.1:p.Ser380=
XM_011542134.1:c.1041C>T (EPS8L3)	XP_011540436.1:p.Ser347=
XM_011542135.1:c.1041C>T (EPS8L3)	XP_011540437.1:p.Ser347=
XM_011542136.1:c.1017C>T (EPS8L3)	XP_011540438.1:p.Ser339=
XR_946755.1:n.1564C>T (EPS8L3)
XR_946756.1:n.1565C>T (EPS8L3)
NM_001319952.1:c.1017C>T (EPS8L3)	NP_001306881.1:p.Ser339=
XM_011542132.2:c.1143C>T (EPS8L3)	XP_011540434.1:p.Ser381=
XM_011542133.2:c.1140C>T (EPS8L3)	XP_011540435.1:p.Ser380=
XM_011542134.3:c.1041C>T (EPS8L3)	XP_011540436.1:p.Ser347=
XM_011542135.3:c.1041C>T (EPS8L3)	XP_011540437.1:p.Ser347=
XM_017002327.2:c.1143C>T (EPS8L3)	XP_016857816.1:p.Ser381=
XM_017002328.2:c.1143C>T (EPS8L3)	XP_016857817.1:p.Ser381=
XM_017002329.2:c.1119C>T (EPS8L3)	XP_016857818.1:p.Ser373=
XR_001737406.2:n.1292C>T (EPS8L3)
XR_001737407.2:n.1292C>T (EPS8L3)
NM_001319952.2:c.1017C>T (EPS8L3)	NP_001306881.1:p.Ser339=
NM_024526.4:c.1116C>T (EPS8L3)	NP_078802.2:p.Ser372=
NM_133181.4:c.1116C>T (EPS8L3) MANE Select	NP_573444.2:p.Ser372=
NM_139053.3:c.1119C>T (EPS8L3)	NP_620641.1:p.Ser373=