Canonical Allele Identifier: CA7520576

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43210408C>T , CM000677.2:g.43210408C>T	GRCh38
NC_000015.9:g.43502606C>T , CM000677.1:g.43502606C>T	GRCh37
NC_000015.8:g.41289898C>T	NCBI36
NG_011505.1:g.15718G>A
NG_011505.2:g.20449G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.581G>A MANE Select	NP_001107606.1:p.Arg194His
ENST00000441366.7:c.581G>A MANE Select	ENSP00000396616.2:p.Arg194His
NM_000119.2:c.671G>A	NP_000110.2:p.Arg224His
NM_000119.3:c.671G>A	NP_000110.2:p.Arg224His
NM_001114134.1:c.581G>A	NP_001107606.1:p.Arg194His
ENST00000300215.7:c.671G>A	ENSP00000300215.3:p.Arg224His
ENST00000441366.6:c.581G>A	ENSP00000396616.2:p.Arg194His
ENST00000540029.5:c.347G>A	ENSP00000444699.1:p.Arg116His
ENST00000568508.5:c.440G>A	ENSP00000457140.1:p.Arg147His
ENST00000569204.1:c.214-957G>A	ENSP00000455489.1:n.214-957G>A
ENST00000622454.4:c.581G>A	ENSP00000481226.1:p.Arg194His
ENST00000648595.1:c.671G>A	ENSP00000497777.1:p.Arg224His
XM_005254225.1:c.550-957G>A	XP_005254282.1:n.550-957G>A
XM_011521349.1:c.671G>A	XP_011519651.1:p.Arg224His
XM_011521349.2:c.671G>A	XP_011519651.1:p.Arg224His
XM_011521350.1:c.671G>A	XP_011519652.1:p.Arg224His
XM_011521350.2:c.671G>A	XP_011519652.1:p.Arg224His
XM_011521351.1:c.671G>A	XP_011519653.1:p.Arg224His
XM_011521351.2:c.671G>A	XP_011519653.1:p.Arg224His
XM_011521352.1:c.635G>A	XP_011519654.1:p.Arg212His
XM_011521352.2:c.635G>A	XP_011519654.1:p.Arg212His
XM_011521353.1:c.640-957G>A	XP_011519655.1:n.640-957G>A
XM_011521353.2:c.640-957G>A	XP_011519655.1:n.640-957G>A
XM_011521354.1:c.116G>A	XP_011519656.1:p.Arg39His
XM_011521354.2:c.116G>A	XP_011519656.1:p.Arg39His