Canonical Allele Identifier: CA392116243

Gene: EPB42

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.839G>C MANE Select	NP_001107606.1:p.Arg280Pro
ENST00000441366.7:c.839G>C MANE Select	ENSP00000396616.2:p.Arg280Pro
NM_000119.2:c.929G>C	NP_000110.2:p.Arg310Pro
NM_000119.3:c.929G>C	NP_000110.2:p.Arg310Pro
NM_001114134.1:c.839G>C	NP_001107606.1:p.Arg280Pro
ENST00000300215.7:c.929G>C	ENSP00000300215.3:p.Arg310Pro
ENST00000441366.6:c.839G>C	ENSP00000396616.2:p.Arg280Pro
ENST00000540029.5:c.605G>C	ENSP00000444699.1:p.Arg202Pro
ENST00000567019.1:n.354G>C
ENST00000567019.2:n.345G>C
ENST00000568508.5:c.698G>C	ENSP00000457140.1:p.Arg233Pro
ENST00000569204.1:c.398G>C	ENSP00000455489.1:p.Arg133Pro
ENST00000622454.4:c.839G>C	ENSP00000481226.1:p.Arg280Pro
ENST00000648595.1:c.929G>C	ENSP00000497777.1:p.Arg310Pro
XM_005254225.1:c.734G>C	XP_005254282.1:p.Arg245Pro
XM_011521349.1:c.929G>C	XP_011519651.1:p.Arg310Pro
XM_011521349.2:c.929G>C	XP_011519651.1:p.Arg310Pro
XM_011521350.1:c.929G>C	XP_011519652.1:p.Arg310Pro
XM_011521350.2:c.929G>C	XP_011519652.1:p.Arg310Pro
XM_011521351.1:c.929G>C	XP_011519653.1:p.Arg310Pro
XM_011521351.2:c.929G>C	XP_011519653.1:p.Arg310Pro
XM_011521352.1:c.893G>C	XP_011519654.1:p.Arg298Pro
XM_011521352.2:c.893G>C	XP_011519654.1:p.Arg298Pro
XM_011521353.1:c.824G>C	XP_011519655.1:p.Arg275Pro
XM_011521353.2:c.824G>C	XP_011519655.1:p.Arg275Pro
XM_011521354.1:c.374G>C	XP_011519656.1:p.Arg125Pro
XM_011521354.2:c.374G>C	XP_011519656.1:p.Arg125Pro