Canonical Allele Identifier: CA341551191

Gene: EPS8L3 GSTM5

Linked Data

• dbSNP Id: rs1650354030
• gnomAD v4: 1-109757076-A-T
• MyVariant Identifiers: chr1:g.110299698A>T (hg19) ; chr1:g.109757076A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109757076A>T , CM000663.2:g.109757076A>T	GRCh38
NC_000001.10:g.110299698A>T , CM000663.1:g.110299698A>T	GRCh37
NC_000001.9:g.110101221A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361965.9:c.1059T>A (EPS8L3) MANE Select	ENSP00000355255.4:p.Cys353Ter
ENST00000361852.8:c.1059T>A (EPS8L3)	ENSP00000354551.4:p.Cys353Ter
ENST00000361965.8:c.1059T>A (EPS8L3)	ENSP00000355255.4:p.Cys353Ter
ENST00000369805.7:c.1062T>A (EPS8L3)	ENSP00000358820.3:p.Cys354Ter
ENST00000429410.2:n.83-17996A>T (GSTM5)
ENST00000472325.5:c.*1028T>A (EPS8L3)	ENSP00000483789.1:n.*1028T>A
NM_024526.3:c.1059T>A (EPS8L3)	NP_078802.2:p.Cys353Ter
NM_133181.3:c.1059T>A (EPS8L3)	NP_573444.2:p.Cys353Ter
NM_139053.2:c.1062T>A (EPS8L3)	NP_620641.1:p.Cys354Ter
XM_011542127.1:c.1329T>A (EPS8L3)	XP_011540429.1:p.Cys443Ter
XM_011542128.1:c.1326T>A (EPS8L3)	XP_011540430.1:p.Cys442Ter
XM_011542129.1:c.1305T>A (EPS8L3)	XP_011540431.1:p.Cys435Ter
XM_011542130.1:c.1329T>A (EPS8L3)	XP_011540432.1:p.Cys443Ter
XM_011542131.1:c.1329T>A (EPS8L3)	XP_011540433.1:p.Cys443Ter
XM_011542132.1:c.1086T>A (EPS8L3)	XP_011540434.1:p.Cys362Ter
XM_011542133.1:c.1083T>A (EPS8L3)	XP_011540435.1:p.Cys361Ter
XM_011542134.1:c.984T>A (EPS8L3)	XP_011540436.1:p.Cys328Ter
XM_011542135.1:c.984T>A (EPS8L3)	XP_011540437.1:p.Cys328Ter
XM_011542136.1:c.960T>A (EPS8L3)	XP_011540438.1:p.Cys320Ter
XR_946755.1:n.1507T>A (EPS8L3)
XR_946756.1:n.1508T>A (EPS8L3)
NM_001319952.1:c.960T>A (EPS8L3)	NP_001306881.1:p.Cys320Ter
XM_011542132.2:c.1086T>A (EPS8L3)	XP_011540434.1:p.Cys362Ter
XM_011542133.2:c.1083T>A (EPS8L3)	XP_011540435.1:p.Cys361Ter
XM_011542134.3:c.984T>A (EPS8L3)	XP_011540436.1:p.Cys328Ter
XM_011542135.3:c.984T>A (EPS8L3)	XP_011540437.1:p.Cys328Ter
XM_017002327.2:c.1086T>A (EPS8L3)	XP_016857816.1:p.Cys362Ter
XM_017002328.2:c.1086T>A (EPS8L3)	XP_016857817.1:p.Cys362Ter
XM_017002329.2:c.1062T>A (EPS8L3)	XP_016857818.1:p.Cys354Ter
XR_001737406.2:n.1235T>A (EPS8L3)
XR_001737407.2:n.1235T>A (EPS8L3)
NM_001319952.2:c.960T>A (EPS8L3)	NP_001306881.1:p.Cys320Ter
NM_024526.4:c.1059T>A (EPS8L3)	NP_078802.2:p.Cys353Ter
NM_133181.4:c.1059T>A (EPS8L3) MANE Select	NP_573444.2:p.Cys353Ter
NM_139053.3:c.1062T>A (EPS8L3)	NP_620641.1:p.Cys354Ter