Canonical Allele Identifier: CA525318776

Gene: EPS8L3 GSTM5

Linked Data

• dbSNP Id: rs1486693108
• gnomAD v2: 1-110299595-A-G
• gnomAD v4: 1-109756973-A-G
• MyVariant Identifiers: chr1:g.110299595A>G (hg19) ; chr1:g.109756973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109756973A>G , CM000663.2:g.109756973A>G	GRCh38
NC_000001.10:g.110299595A>G , CM000663.1:g.110299595A>G	GRCh37
NC_000001.9:g.110101118A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361965.9:c.1118+44T>C (EPS8L3) MANE Select	ENSP00000355255.4:n.1118+44T>C
ENST00000361852.8:c.1118+44T>C (EPS8L3)	ENSP00000354551.4:n.1118+44T>C
ENST00000361965.8:c.1118+44T>C (EPS8L3)	ENSP00000355255.4:n.1118+44T>C
ENST00000369805.7:c.1121+44T>C (EPS8L3)	ENSP00000358820.3:n.1121+44T>C
ENST00000429410.2:n.83-18099A>G (GSTM5)
ENST00000472325.5:c.*1087+44T>C (EPS8L3)	ENSP00000483789.1:n.*1087+44T>C
NM_024526.3:c.1118+44T>C (EPS8L3)	NP_078802.2:n.1118+44T>C
NM_133181.3:c.1118+44T>C (EPS8L3)	NP_573444.2:n.1118+44T>C
NM_139053.2:c.1121+44T>C (EPS8L3)	NP_620641.1:n.1121+44T>C
XM_011542127.1:c.1388+44T>C (EPS8L3)	XP_011540429.1:n.1388+44T>C
XM_011542128.1:c.1385+44T>C (EPS8L3)	XP_011540430.1:n.1385+44T>C
XM_011542129.1:c.1364+44T>C (EPS8L3)	XP_011540431.1:n.1364+44T>C
XM_011542130.1:c.1388+44T>C (EPS8L3)	XP_011540432.1:n.1388+44T>C
XM_011542131.1:c.1388+44T>C (EPS8L3)	XP_011540433.1:n.1388+44T>C
XM_011542132.1:c.1145+44T>C (EPS8L3)	XP_011540434.1:n.1145+44T>C
XM_011542133.1:c.1142+44T>C (EPS8L3)	XP_011540435.1:n.1142+44T>C
XM_011542134.1:c.1043+44T>C (EPS8L3)	XP_011540436.1:n.1043+44T>C
XM_011542135.1:c.1043+44T>C (EPS8L3)	XP_011540437.1:n.1043+44T>C
XM_011542136.1:c.1019+44T>C (EPS8L3)	XP_011540438.1:n.1019+44T>C
XR_946755.1:n.1566+44T>C (EPS8L3)
XR_946756.1:n.1567+44T>C (EPS8L3)
NM_001319952.1:c.1019+44T>C (EPS8L3)	NP_001306881.1:n.1019+44T>C
XM_011542132.2:c.1145+44T>C (EPS8L3)	XP_011540434.1:n.1145+44T>C
XM_011542133.2:c.1142+44T>C (EPS8L3)	XP_011540435.1:n.1142+44T>C
XM_011542134.3:c.1043+44T>C (EPS8L3)	XP_011540436.1:n.1043+44T>C
XM_011542135.3:c.1043+44T>C (EPS8L3)	XP_011540437.1:n.1043+44T>C
XM_017002327.2:c.1145+44T>C (EPS8L3)	XP_016857816.1:n.1145+44T>C
XM_017002328.2:c.1145+44T>C (EPS8L3)	XP_016857817.1:n.1145+44T>C
XM_017002329.2:c.1121+44T>C (EPS8L3)	XP_016857818.1:n.1121+44T>C
XR_001737406.2:n.1294+44T>C (EPS8L3)
XR_001737407.2:n.1294+44T>C (EPS8L3)
NM_001319952.2:c.1019+44T>C (EPS8L3)	NP_001306881.1:n.1019+44T>C
NM_024526.4:c.1118+44T>C (EPS8L3)	NP_078802.2:n.1118+44T>C
NM_133181.4:c.1118+44T>C (EPS8L3) MANE Select	NP_573444.2:n.1118+44T>C
NM_139053.3:c.1121+44T>C (EPS8L3)	NP_620641.1:n.1121+44T>C