Canonical Allele Identifier: CA2173084499

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43215191C= , CM000677.2:g.43215191C=	GRCh38
NC_000015.9:g.43507389C= , CM000677.1:g.43507389C=	GRCh37
NC_000015.8:g.41294681C=	NCBI36
NG_011505.1:g.10935G=
NG_011505.2:g.15666G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.334G= MANE Select	NP_001107606.1:p.Ala112=
ENST00000441366.7:c.334G= MANE Select	ENSP00000396616.2:p.Ala112=
NM_000119.2:c.424G=	NP_000110.2:p.Ala142=
NM_000119.3:c.424G=	NP_000110.2:p.Ala142=
NM_001114134.1:c.334G=	NP_001107606.1:p.Ala112=
ENST00000300215.7:c.424G=	ENSP00000300215.3:p.Ala142=
ENST00000441366.6:c.334G=	ENSP00000396616.2:p.Ala112=
ENST00000540029.5:c.196+1077G=	ENSP00000444699.1:n.196+1077G=
ENST00000568508.5:c.193G=	ENSP00000457140.1:p.Ala65=
ENST00000622454.4:c.334G=	ENSP00000481226.1:p.Ala112=
ENST00000648595.1:c.424G=	ENSP00000497777.1:p.Ala142=
XM_005254225.1:c.334G=	XP_005254282.1:p.Ala112=
XM_011521349.1:c.424G=	XP_011519651.1:p.Ala142=
XM_011521349.2:c.424G=	XP_011519651.1:p.Ala142=
XM_011521350.1:c.424G=	XP_011519652.1:p.Ala142=
XM_011521350.2:c.424G=	XP_011519652.1:p.Ala142=
XM_011521351.1:c.424G=	XP_011519653.1:p.Ala142=
XM_011521351.2:c.424G=	XP_011519653.1:p.Ala142=
XM_011521352.1:c.424G=	XP_011519654.1:p.Ala142=
XM_011521352.2:c.424G=	XP_011519654.1:p.Ala142=
XM_011521353.1:c.424G=	XP_011519655.1:p.Ala142=
XM_011521353.2:c.424G=	XP_011519655.1:p.Ala142=
XM_011521354.1:c.-212G=	XP_011519656.1:n.-212G=