Canonical Allele Identifier: CA341551008

Gene: EPS8L3 GSTM5

Linked Data

• dbSNP Id: rs1445733767
• gnomAD v2: 1-110299650-C-G
• gnomAD v4: 1-109757028-C-G
• MyVariant Identifiers: chr1:g.110299650C>G (hg19) ; chr1:g.109757028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109757028C>G , CM000663.2:g.109757028C>G	GRCh38
NC_000001.10:g.110299650C>G , CM000663.1:g.110299650C>G	GRCh37
NC_000001.9:g.110101173C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361965.9:c.1107G>C (EPS8L3) MANE Select	ENSP00000355255.4:p.Trp369Cys
ENST00000361852.8:c.1107G>C (EPS8L3)	ENSP00000354551.4:p.Trp369Cys
ENST00000361965.8:c.1107G>C (EPS8L3)	ENSP00000355255.4:p.Trp369Cys
ENST00000369805.7:c.1110G>C (EPS8L3)	ENSP00000358820.3:p.Trp370Cys
ENST00000429410.2:n.83-18044C>G (GSTM5)
ENST00000472325.5:c.*1076G>C (EPS8L3)	ENSP00000483789.1:n.*1076G>C
NM_024526.3:c.1107G>C (EPS8L3)	NP_078802.2:p.Trp369Cys
NM_133181.3:c.1107G>C (EPS8L3)	NP_573444.2:p.Trp369Cys
NM_139053.2:c.1110G>C (EPS8L3)	NP_620641.1:p.Trp370Cys
XM_011542127.1:c.1377G>C (EPS8L3)	XP_011540429.1:p.Trp459Cys
XM_011542128.1:c.1374G>C (EPS8L3)	XP_011540430.1:p.Trp458Cys
XM_011542129.1:c.1353G>C (EPS8L3)	XP_011540431.1:p.Trp451Cys
XM_011542130.1:c.1377G>C (EPS8L3)	XP_011540432.1:p.Trp459Cys
XM_011542131.1:c.1377G>C (EPS8L3)	XP_011540433.1:p.Trp459Cys
XM_011542132.1:c.1134G>C (EPS8L3)	XP_011540434.1:p.Trp378Cys
XM_011542133.1:c.1131G>C (EPS8L3)	XP_011540435.1:p.Trp377Cys
XM_011542134.1:c.1032G>C (EPS8L3)	XP_011540436.1:p.Trp344Cys
XM_011542135.1:c.1032G>C (EPS8L3)	XP_011540437.1:p.Trp344Cys
XM_011542136.1:c.1008G>C (EPS8L3)	XP_011540438.1:p.Trp336Cys
XR_946755.1:n.1555G>C (EPS8L3)
XR_946756.1:n.1556G>C (EPS8L3)
NM_001319952.1:c.1008G>C (EPS8L3)	NP_001306881.1:p.Trp336Cys
XM_011542132.2:c.1134G>C (EPS8L3)	XP_011540434.1:p.Trp378Cys
XM_011542133.2:c.1131G>C (EPS8L3)	XP_011540435.1:p.Trp377Cys
XM_011542134.3:c.1032G>C (EPS8L3)	XP_011540436.1:p.Trp344Cys
XM_011542135.3:c.1032G>C (EPS8L3)	XP_011540437.1:p.Trp344Cys
XM_017002327.2:c.1134G>C (EPS8L3)	XP_016857816.1:p.Trp378Cys
XM_017002328.2:c.1134G>C (EPS8L3)	XP_016857817.1:p.Trp378Cys
XM_017002329.2:c.1110G>C (EPS8L3)	XP_016857818.1:p.Trp370Cys
XR_001737406.2:n.1283G>C (EPS8L3)
XR_001737407.2:n.1283G>C (EPS8L3)
NM_001319952.2:c.1008G>C (EPS8L3)	NP_001306881.1:p.Trp336Cys
NM_024526.4:c.1107G>C (EPS8L3)	NP_078802.2:p.Trp369Cys
NM_133181.4:c.1107G>C (EPS8L3) MANE Select	NP_573444.2:p.Trp369Cys
NM_139053.3:c.1110G>C (EPS8L3)	NP_620641.1:p.Trp370Cys