Canonical Allele Identifier: CA7520390

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43207393G>A , CM000677.2:g.43207393G>A	GRCh38
NC_000015.9:g.43499591G>A , CM000677.1:g.43499591G>A	GRCh37
NC_000015.8:g.41286883G>A	NCBI36
NG_011505.1:g.18733C>T
NG_011505.2:g.23464C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.1124C>T MANE Select	NP_001107606.1:p.Thr375Met
ENST00000441366.7:c.1124C>T MANE Select	ENSP00000396616.2:p.Thr375Met
NM_000119.2:c.1214C>T	NP_000110.2:p.Thr405Met
NM_000119.3:c.1214C>T	NP_000110.2:p.Thr405Met
NM_001114134.1:c.1124C>T	NP_001107606.1:p.Thr375Met
ENST00000300215.7:c.1214C>T	ENSP00000300215.3:p.Thr405Met
ENST00000441366.6:c.1124C>T	ENSP00000396616.2:p.Thr375Met
ENST00000540029.5:c.890C>T	ENSP00000444699.1:p.Thr297Met
ENST00000567019.1:n.639C>T
ENST00000567019.2:n.630C>T
ENST00000568508.5:c.983C>T	ENSP00000457140.1:p.Thr328Met
ENST00000622454.4:c.972-64C>T	ENSP00000481226.1:n.972-64C>T
ENST00000648595.1:c.1214C>T	ENSP00000497777.1:p.Thr405Met
XM_005254225.1:c.1019C>T	XP_005254282.1:p.Thr340Met
XM_011521349.1:c.1214C>T	XP_011519651.1:p.Thr405Met
XM_011521349.2:c.1214C>T	XP_011519651.1:p.Thr405Met
XM_011521350.1:c.1214C>T	XP_011519652.1:p.Thr405Met
XM_011521350.2:c.1214C>T	XP_011519652.1:p.Thr405Met
XM_011521351.1:c.1214C>T	XP_011519653.1:p.Thr405Met
XM_011521351.2:c.1214C>T	XP_011519653.1:p.Thr405Met
XM_011521352.1:c.1178C>T	XP_011519654.1:p.Thr393Met
XM_011521352.2:c.1178C>T	XP_011519654.1:p.Thr393Met
XM_011521353.1:c.1109C>T	XP_011519655.1:p.Thr370Met
XM_011521353.2:c.1109C>T	XP_011519655.1:p.Thr370Met
XM_011521354.1:c.659C>T	XP_011519656.1:p.Thr220Met
XM_011521354.2:c.659C>T	XP_011519656.1:p.Thr220Met