Canonical Allele Identifier: CA341551210

Gene: EPS8L3 GSTM5

Linked Data

• dbSNP Id: rs1275250816
• gnomAD v4: 1-109757082-C-G
• MyVariant Identifiers: chr1:g.110299704C>G (hg19) ; chr1:g.109757082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109757082C>G , CM000663.2:g.109757082C>G	GRCh38
NC_000001.10:g.110299704C>G , CM000663.1:g.110299704C>G	GRCh37
NC_000001.9:g.110101227C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361965.9:c.1053G>C (EPS8L3) MANE Select	ENSP00000355255.4:p.Gln351His
ENST00000361852.8:c.1053G>C (EPS8L3)	ENSP00000354551.4:p.Gln351His
ENST00000361965.8:c.1053G>C (EPS8L3)	ENSP00000355255.4:p.Gln351His
ENST00000369805.7:c.1056G>C (EPS8L3)	ENSP00000358820.3:p.Gln352His
ENST00000429410.2:n.83-17990C>G (GSTM5)
ENST00000472325.5:c.*1022G>C (EPS8L3)	ENSP00000483789.1:n.*1022G>C
NM_024526.3:c.1053G>C (EPS8L3)	NP_078802.2:p.Gln351His
NM_133181.3:c.1053G>C (EPS8L3)	NP_573444.2:p.Gln351His
NM_139053.2:c.1056G>C (EPS8L3)	NP_620641.1:p.Gln352His
XM_011542127.1:c.1323G>C (EPS8L3)	XP_011540429.1:p.Gln441His
XM_011542128.1:c.1320G>C (EPS8L3)	XP_011540430.1:p.Gln440His
XM_011542129.1:c.1299G>C (EPS8L3)	XP_011540431.1:p.Gln433His
XM_011542130.1:c.1323G>C (EPS8L3)	XP_011540432.1:p.Gln441His
XM_011542131.1:c.1323G>C (EPS8L3)	XP_011540433.1:p.Gln441His
XM_011542132.1:c.1080G>C (EPS8L3)	XP_011540434.1:p.Gln360His
XM_011542133.1:c.1077G>C (EPS8L3)	XP_011540435.1:p.Gln359His
XM_011542134.1:c.978G>C (EPS8L3)	XP_011540436.1:p.Gln326His
XM_011542135.1:c.978G>C (EPS8L3)	XP_011540437.1:p.Gln326His
XM_011542136.1:c.954G>C (EPS8L3)	XP_011540438.1:p.Gln318His
XR_946755.1:n.1501G>C (EPS8L3)
XR_946756.1:n.1502G>C (EPS8L3)
NM_001319952.1:c.954G>C (EPS8L3)	NP_001306881.1:p.Gln318His
XM_011542132.2:c.1080G>C (EPS8L3)	XP_011540434.1:p.Gln360His
XM_011542133.2:c.1077G>C (EPS8L3)	XP_011540435.1:p.Gln359His
XM_011542134.3:c.978G>C (EPS8L3)	XP_011540436.1:p.Gln326His
XM_011542135.3:c.978G>C (EPS8L3)	XP_011540437.1:p.Gln326His
XM_017002327.2:c.1080G>C (EPS8L3)	XP_016857816.1:p.Gln360His
XM_017002328.2:c.1080G>C (EPS8L3)	XP_016857817.1:p.Gln360His
XM_017002329.2:c.1056G>C (EPS8L3)	XP_016857818.1:p.Gln352His
XR_001737406.2:n.1229G>C (EPS8L3)
XR_001737407.2:n.1229G>C (EPS8L3)
NM_001319952.2:c.954G>C (EPS8L3)	NP_001306881.1:p.Gln318His
NM_024526.4:c.1053G>C (EPS8L3)	NP_078802.2:p.Gln351His
NM_133181.4:c.1053G>C (EPS8L3) MANE Select	NP_573444.2:p.Gln351His
NM_139053.3:c.1056G>C (EPS8L3)	NP_620641.1:p.Gln352His