Canonical Allele Identifier: CA7520334

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43206561C>T , CM000677.2:g.43206561C>T	GRCh38
NC_000015.9:g.43498759C>T , CM000677.1:g.43498759C>T	GRCh37
NC_000015.8:g.41286051C>T	NCBI36
NG_011505.1:g.19565G>A
NG_011505.2:g.24296G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.1387G>A MANE Select	NP_001107606.1:p.Gly463Ser
ENST00000441366.7:c.1387G>A MANE Select	ENSP00000396616.2:p.Gly463Ser
NM_000119.2:c.1477G>A	NP_000110.2:p.Gly493Ser
NM_000119.3:c.1477G>A	NP_000110.2:p.Gly493Ser
NM_001114134.1:c.1387G>A	NP_001107606.1:p.Gly463Ser
ENST00000300215.7:c.1477G>A	ENSP00000300215.3:p.Gly493Ser
ENST00000441366.6:c.1387G>A	ENSP00000396616.2:p.Gly463Ser
ENST00000540029.5:c.1153G>A	ENSP00000444699.1:p.Gly385Ser
ENST00000565459.1:c.110G>A
ENST00000567019.1:n.902G>A
ENST00000567019.2:n.893G>A
ENST00000568508.5:c.1246G>A	ENSP00000457140.1:p.Gly416Ser
ENST00000622454.4:c.1171G>A	ENSP00000481226.1:p.Gly391Ser
ENST00000648595.1:c.1477G>A	ENSP00000497777.1:p.Gly493Ser
XM_005254225.1:c.1282G>A	XP_005254282.1:p.Gly428Ser
XM_011521349.1:c.1477G>A	XP_011519651.1:p.Gly493Ser
XM_011521349.2:c.1477G>A	XP_011519651.1:p.Gly493Ser
XM_011521350.1:c.1477G>A	XP_011519652.1:p.Gly493Ser
XM_011521350.2:c.1477G>A	XP_011519652.1:p.Gly493Ser
XM_011521351.1:c.1477G>A	XP_011519653.1:p.Gly493Ser
XM_011521351.2:c.1477G>A	XP_011519653.1:p.Gly493Ser
XM_011521352.1:c.1441G>A	XP_011519654.1:p.Gly481Ser
XM_011521352.2:c.1441G>A	XP_011519654.1:p.Gly481Ser
XM_011521353.1:c.1372G>A	XP_011519655.1:p.Gly458Ser
XM_011521353.2:c.1372G>A	XP_011519655.1:p.Gly458Ser
XM_011521354.1:c.922G>A	XP_011519656.1:p.Gly308Ser
XM_011521354.2:c.922G>A	XP_011519656.1:p.Gly308Ser