Canonical Allele Identifier: CA419385075

Gene: EPS8L3 GSTM5

Linked Data

• dbSNP Id: rs1650347769
• gnomAD v4: 1-109757037-G-C
• MyVariant Identifiers: chr1:g.110299659G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109757037G>C , CM000663.2:g.109757037G>C	GRCh38
NC_000001.10:g.110299659G>C , CM000663.1:g.110299659G>C	GRCh37
NC_000001.9:g.110101182G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361965.9:c.1098C>G (EPS8L3) MANE Select	ENSP00000355255.4:p.Gly366=
ENST00000361852.8:c.1098C>G (EPS8L3)	ENSP00000354551.4:p.Gly366=
ENST00000361965.8:c.1098C>G (EPS8L3)	ENSP00000355255.4:p.Gly366=
ENST00000369805.7:c.1101C>G (EPS8L3)	ENSP00000358820.3:p.Gly367=
ENST00000429410.2:n.83-18035G>C (GSTM5)
ENST00000472325.5:c.*1067C>G (EPS8L3)	ENSP00000483789.1:n.*1067C>G
NM_024526.3:c.1098C>G (EPS8L3)	NP_078802.2:p.Gly366=
NM_133181.3:c.1098C>G (EPS8L3)	NP_573444.2:p.Gly366=
NM_139053.2:c.1101C>G (EPS8L3)	NP_620641.1:p.Gly367=
XM_011542127.1:c.1368C>G (EPS8L3)	XP_011540429.1:p.Gly456=
XM_011542128.1:c.1365C>G (EPS8L3)	XP_011540430.1:p.Gly455=
XM_011542129.1:c.1344C>G (EPS8L3)	XP_011540431.1:p.Gly448=
XM_011542130.1:c.1368C>G (EPS8L3)	XP_011540432.1:p.Gly456=
XM_011542131.1:c.1368C>G (EPS8L3)	XP_011540433.1:p.Gly456=
XM_011542132.1:c.1125C>G (EPS8L3)	XP_011540434.1:p.Gly375=
XM_011542133.1:c.1122C>G (EPS8L3)	XP_011540435.1:p.Gly374=
XM_011542134.1:c.1023C>G (EPS8L3)	XP_011540436.1:p.Gly341=
XM_011542135.1:c.1023C>G (EPS8L3)	XP_011540437.1:p.Gly341=
XM_011542136.1:c.999C>G (EPS8L3)	XP_011540438.1:p.Gly333=
XR_946755.1:n.1546C>G (EPS8L3)
XR_946756.1:n.1547C>G (EPS8L3)
NM_001319952.1:c.999C>G (EPS8L3)	NP_001306881.1:p.Gly333=
XM_011542132.2:c.1125C>G (EPS8L3)	XP_011540434.1:p.Gly375=
XM_011542133.2:c.1122C>G (EPS8L3)	XP_011540435.1:p.Gly374=
XM_011542134.3:c.1023C>G (EPS8L3)	XP_011540436.1:p.Gly341=
XM_011542135.3:c.1023C>G (EPS8L3)	XP_011540437.1:p.Gly341=
XM_017002327.2:c.1125C>G (EPS8L3)	XP_016857816.1:p.Gly375=
XM_017002328.2:c.1125C>G (EPS8L3)	XP_016857817.1:p.Gly375=
XM_017002329.2:c.1101C>G (EPS8L3)	XP_016857818.1:p.Gly367=
XR_001737406.2:n.1274C>G (EPS8L3)
XR_001737407.2:n.1274C>G (EPS8L3)
NM_001319952.2:c.999C>G (EPS8L3)	NP_001306881.1:p.Gly333=
NM_024526.4:c.1098C>G (EPS8L3)	NP_078802.2:p.Gly366=
NM_133181.4:c.1098C>G (EPS8L3) MANE Select	NP_573444.2:p.Gly366=
NM_139053.3:c.1101C>G (EPS8L3)	NP_620641.1:p.Gly367=