Canonical Allele Identifier: CA2173081601

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43208769C= , CM000677.2:g.43208769C=	GRCh38
NC_000015.9:g.43500967C= , CM000677.1:g.43500967C=	GRCh37
NC_000015.8:g.41288259C=	NCBI36
NG_011505.1:g.17357G=
NG_011505.2:g.22088G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.839G= MANE Select	NP_001107606.1:p.Arg280=
ENST00000441366.7:c.839G= MANE Select	ENSP00000396616.2:p.Arg280=
NM_000119.2:c.929G=	NP_000110.2:p.Arg310=
NM_000119.3:c.929G=	NP_000110.2:p.Arg310=
NM_001114134.1:c.839G=	NP_001107606.1:p.Arg280=
ENST00000300215.7:c.929G=	ENSP00000300215.3:p.Arg310=
ENST00000441366.6:c.839G=	ENSP00000396616.2:p.Arg280=
ENST00000540029.5:c.605G=	ENSP00000444699.1:p.Arg202=
ENST00000567019.1:n.354G=
ENST00000567019.2:n.345G=
ENST00000568508.5:c.698G=	ENSP00000457140.1:p.Arg233=
ENST00000569204.1:c.398G=	ENSP00000455489.1:p.Arg133=
ENST00000622454.4:c.839G=	ENSP00000481226.1:p.Arg280=
ENST00000648595.1:c.929G=	ENSP00000497777.1:p.Arg310=
XM_005254225.1:c.734G=	XP_005254282.1:p.Arg245=
XM_011521349.1:c.929G=	XP_011519651.1:p.Arg310=
XM_011521349.2:c.929G=	XP_011519651.1:p.Arg310=
XM_011521350.1:c.929G=	XP_011519652.1:p.Arg310=
XM_011521350.2:c.929G=	XP_011519652.1:p.Arg310=
XM_011521351.1:c.929G=	XP_011519653.1:p.Arg310=
XM_011521351.2:c.929G=	XP_011519653.1:p.Arg310=
XM_011521352.1:c.893G=	XP_011519654.1:p.Arg298=
XM_011521352.2:c.893G=	XP_011519654.1:p.Arg298=
XM_011521353.1:c.824G=	XP_011519655.1:p.Arg275=
XM_011521353.2:c.824G=	XP_011519655.1:p.Arg275=
XM_011521354.1:c.374G=	XP_011519656.1:p.Arg125=
XM_011521354.2:c.374G=	XP_011519656.1:p.Arg125=