Canonical Allele Identifier: CA995379

Gene: EPS8L3 GSTM5

Linked Data

• dbSNP Id: rs762076759
• ExAC: 1:110299640 G / T
• gnomAD v2: 1-110299640-G-T
• gnomAD v3: 1-109757018-G-T
• gnomAD v4: 1-109757018-G-T
• MyVariant Identifiers: chr1:g.110299640G>T (hg19) ; chr1:g.109757018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109757018G>T , CM000663.2:g.109757018G>T	GRCh38
NC_000001.10:g.110299640G>T , CM000663.1:g.110299640G>T	GRCh37
NC_000001.9:g.110101163G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361965.9:c.1117C>A (EPS8L3) MANE Select	ENSP00000355255.4:p.Arg373=
ENST00000361852.8:c.1117C>A (EPS8L3)	ENSP00000354551.4:p.Arg373=
ENST00000361965.8:c.1117C>A (EPS8L3)	ENSP00000355255.4:p.Arg373=
ENST00000369805.7:c.1120C>A (EPS8L3)	ENSP00000358820.3:p.Arg374=
ENST00000429410.2:n.83-18054G>T (GSTM5)
ENST00000472325.5:c.*1086C>A (EPS8L3)	ENSP00000483789.1:n.*1086C>A
NM_024526.3:c.1117C>A (EPS8L3)	NP_078802.2:p.Arg373=
NM_133181.3:c.1117C>A (EPS8L3)	NP_573444.2:p.Arg373=
NM_139053.2:c.1120C>A (EPS8L3)	NP_620641.1:p.Arg374=
XM_011542127.1:c.1387C>A (EPS8L3)	XP_011540429.1:p.Arg463=
XM_011542128.1:c.1384C>A (EPS8L3)	XP_011540430.1:p.Arg462=
XM_011542129.1:c.1363C>A (EPS8L3)	XP_011540431.1:p.Arg455=
XM_011542130.1:c.1387C>A (EPS8L3)	XP_011540432.1:p.Arg463=
XM_011542131.1:c.1387C>A (EPS8L3)	XP_011540433.1:p.Arg463=
XM_011542132.1:c.1144C>A (EPS8L3)	XP_011540434.1:p.Arg382=
XM_011542133.1:c.1141C>A (EPS8L3)	XP_011540435.1:p.Arg381=
XM_011542134.1:c.1042C>A (EPS8L3)	XP_011540436.1:p.Arg348=
XM_011542135.1:c.1042C>A (EPS8L3)	XP_011540437.1:p.Arg348=
XM_011542136.1:c.1018C>A (EPS8L3)	XP_011540438.1:p.Arg340=
XR_946755.1:n.1565C>A (EPS8L3)
XR_946756.1:n.1566C>A (EPS8L3)
NM_001319952.1:c.1018C>A (EPS8L3)	NP_001306881.1:p.Arg340=
XM_011542132.2:c.1144C>A (EPS8L3)	XP_011540434.1:p.Arg382=
XM_011542133.2:c.1141C>A (EPS8L3)	XP_011540435.1:p.Arg381=
XM_011542134.3:c.1042C>A (EPS8L3)	XP_011540436.1:p.Arg348=
XM_011542135.3:c.1042C>A (EPS8L3)	XP_011540437.1:p.Arg348=
XM_017002327.2:c.1144C>A (EPS8L3)	XP_016857816.1:p.Arg382=
XM_017002328.2:c.1144C>A (EPS8L3)	XP_016857817.1:p.Arg382=
XM_017002329.2:c.1120C>A (EPS8L3)	XP_016857818.1:p.Arg374=
XR_001737406.2:n.1293C>A (EPS8L3)
XR_001737407.2:n.1293C>A (EPS8L3)
NM_001319952.2:c.1018C>A (EPS8L3)	NP_001306881.1:p.Arg340=
NM_024526.4:c.1117C>A (EPS8L3)	NP_078802.2:p.Arg373=
NM_133181.4:c.1117C>A (EPS8L3) MANE Select	NP_573444.2:p.Arg373=
NM_139053.3:c.1120C>A (EPS8L3)	NP_620641.1:p.Arg374=