Canonical Allele Identifier: CA7520372

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43207237C>T , CM000677.2:g.43207237C>T	GRCh38
NC_000015.9:g.43499435C>T , CM000677.1:g.43499435C>T	GRCh37
NC_000015.8:g.41286727C>T	NCBI36
NG_011505.1:g.18889G>A
NG_011505.2:g.23620G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.1280G>A MANE Select	NP_001107606.1:p.Arg427His
ENST00000441366.7:c.1280G>A MANE Select	ENSP00000396616.2:p.Arg427His
NM_000119.2:c.1370G>A	NP_000110.2:p.Arg457His
NM_000119.3:c.1370G>A	NP_000110.2:p.Arg457His
NM_001114134.1:c.1280G>A	NP_001107606.1:p.Arg427His
ENST00000300215.7:c.1370G>A	ENSP00000300215.3:p.Arg457His
ENST00000441366.6:c.1280G>A	ENSP00000396616.2:p.Arg427His
ENST00000540029.5:c.1046G>A	ENSP00000444699.1:p.Arg349His
ENST00000565459.1:c.3G>A
ENST00000567019.1:n.795G>A
ENST00000567019.2:n.786G>A
ENST00000568508.5:c.1139G>A	ENSP00000457140.1:p.Arg380His
ENST00000622454.4:c.1064G>A	ENSP00000481226.1:p.Arg355His
ENST00000648595.1:c.1370G>A	ENSP00000497777.1:p.Arg457His
XM_005254225.1:c.1175G>A	XP_005254282.1:p.Arg392His
XM_011521349.1:c.1370G>A	XP_011519651.1:p.Arg457His
XM_011521349.2:c.1370G>A	XP_011519651.1:p.Arg457His
XM_011521350.1:c.1370G>A	XP_011519652.1:p.Arg457His
XM_011521350.2:c.1370G>A	XP_011519652.1:p.Arg457His
XM_011521351.1:c.1370G>A	XP_011519653.1:p.Arg457His
XM_011521351.2:c.1370G>A	XP_011519653.1:p.Arg457His
XM_011521352.1:c.1334G>A	XP_011519654.1:p.Arg445His
XM_011521352.2:c.1334G>A	XP_011519654.1:p.Arg445His
XM_011521353.1:c.1265G>A	XP_011519655.1:p.Arg422His
XM_011521353.2:c.1265G>A	XP_011519655.1:p.Arg422His
XM_011521354.1:c.815G>A	XP_011519656.1:p.Arg272His
XM_011521354.2:c.815G>A	XP_011519656.1:p.Arg272His