Canonical Allele Identifier: CA2745006419

Gene: EPS8L3 GSTM5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109756995T>C , CM000663.2:g.109756995T>C	GRCh38
NC_000001.10:g.110299617T>C , CM000663.1:g.110299617T>C	GRCh37
NC_000001.9:g.110101140T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361965.9:c.1118+22A>G (EPS8L3) MANE Select	ENSP00000355255.4:n.1118+22A>G
ENST00000361852.8:c.1118+22A>G (EPS8L3)	ENSP00000354551.4:n.1118+22A>G
ENST00000361965.8:c.1118+22A>G (EPS8L3)	ENSP00000355255.4:n.1118+22A>G
ENST00000369805.7:c.1121+22A>G (EPS8L3)	ENSP00000358820.3:n.1121+22A>G
ENST00000429410.2:n.83-18077T>C (GSTM5)
ENST00000472325.5:c.*1087+22A>G (EPS8L3)	ENSP00000483789.1:n.*1087+22A>G
NM_024526.3:c.1118+22A>G (EPS8L3)	NP_078802.2:n.1118+22A>G
NM_133181.3:c.1118+22A>G (EPS8L3)	NP_573444.2:n.1118+22A>G
NM_139053.2:c.1121+22A>G (EPS8L3)	NP_620641.1:n.1121+22A>G
XM_011542127.1:c.1388+22A>G (EPS8L3)	XP_011540429.1:n.1388+22A>G
XM_011542128.1:c.1385+22A>G (EPS8L3)	XP_011540430.1:n.1385+22A>G
XM_011542129.1:c.1364+22A>G (EPS8L3)	XP_011540431.1:n.1364+22A>G
XM_011542130.1:c.1388+22A>G (EPS8L3)	XP_011540432.1:n.1388+22A>G
XM_011542131.1:c.1388+22A>G (EPS8L3)	XP_011540433.1:n.1388+22A>G
XM_011542132.1:c.1145+22A>G (EPS8L3)	XP_011540434.1:n.1145+22A>G
XM_011542133.1:c.1142+22A>G (EPS8L3)	XP_011540435.1:n.1142+22A>G
XM_011542134.1:c.1043+22A>G (EPS8L3)	XP_011540436.1:n.1043+22A>G
XM_011542135.1:c.1043+22A>G (EPS8L3)	XP_011540437.1:n.1043+22A>G
XM_011542136.1:c.1019+22A>G (EPS8L3)	XP_011540438.1:n.1019+22A>G
XR_946755.1:n.1566+22A>G (EPS8L3)
XR_946756.1:n.1567+22A>G (EPS8L3)
NM_001319952.1:c.1019+22A>G (EPS8L3)	NP_001306881.1:n.1019+22A>G
XM_011542132.2:c.1145+22A>G (EPS8L3)	XP_011540434.1:n.1145+22A>G
XM_011542133.2:c.1142+22A>G (EPS8L3)	XP_011540435.1:n.1142+22A>G
XM_011542134.3:c.1043+22A>G (EPS8L3)	XP_011540436.1:n.1043+22A>G
XM_011542135.3:c.1043+22A>G (EPS8L3)	XP_011540437.1:n.1043+22A>G
XM_017002327.2:c.1145+22A>G (EPS8L3)	XP_016857816.1:n.1145+22A>G
XM_017002328.2:c.1145+22A>G (EPS8L3)	XP_016857817.1:n.1145+22A>G
XM_017002329.2:c.1121+22A>G (EPS8L3)	XP_016857818.1:n.1121+22A>G
XR_001737406.2:n.1294+22A>G (EPS8L3)
XR_001737407.2:n.1294+22A>G (EPS8L3)
NM_001319952.2:c.1019+22A>G (EPS8L3)	NP_001306881.1:n.1019+22A>G
NM_024526.4:c.1118+22A>G (EPS8L3)	NP_078802.2:n.1118+22A>G
NM_133181.4:c.1118+22A>G (EPS8L3) MANE Select	NP_573444.2:n.1118+22A>G
NM_139053.3:c.1121+22A>G (EPS8L3)	NP_620641.1:n.1121+22A>G