Canonical Allele Identifier: CA7520246

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43203222C>T , CM000677.2:g.43203222C>T	GRCh38
NC_000015.9:g.43495420C>T , CM000677.1:g.43495420C>T	GRCh37
NC_000015.8:g.41282712C>T	NCBI36
NG_011505.1:g.22904G>A
NG_011505.2:g.27635G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.1672G>A MANE Select	NP_001107606.1:p.Glu558Lys
ENST00000441366.7:c.1672G>A MANE Select	ENSP00000396616.2:p.Glu558Lys
NM_000119.2:c.1762G>A	NP_000110.2:p.Glu588Lys
NM_000119.3:c.1762G>A	NP_000110.2:p.Glu588Lys
NM_001114134.1:c.1672G>A	NP_001107606.1:p.Glu558Lys
ENST00000300215.7:c.1762G>A	ENSP00000300215.3:p.Glu588Lys
ENST00000441366.6:c.1672G>A	ENSP00000396616.2:p.Glu558Lys
ENST00000540029.5:c.1438G>A	ENSP00000444699.1:p.Glu480Lys
ENST00000563128.5:n.206G>A
ENST00000567019.1:n.1187G>A
ENST00000567019.2:n.1178G>A
ENST00000568508.5:c.1478-1245G>A	ENSP00000457140.1:n.1478-1245G>A
ENST00000622454.4:c.1456G>A	ENSP00000481226.1:p.Glu486Lys
ENST00000648595.1:c.1762G>A	ENSP00000497777.1:p.Glu588Lys
XM_005254225.1:c.1567G>A	XP_005254282.1:p.Glu523Lys
XM_011521349.1:c.1762G>A	XP_011519651.1:p.Glu588Lys
XM_011521349.2:c.1762G>A	XP_011519651.1:p.Glu588Lys
XM_011521350.1:c.1762G>A	XP_011519652.1:p.Glu588Lys
XM_011521350.2:c.1762G>A	XP_011519652.1:p.Glu588Lys
XM_011521351.1:c.1762G>A	XP_011519653.1:p.Glu588Lys
XM_011521351.2:c.1762G>A	XP_011519653.1:p.Glu588Lys
XM_011521352.1:c.1726G>A	XP_011519654.1:p.Glu576Lys
XM_011521352.2:c.1726G>A	XP_011519654.1:p.Glu576Lys
XM_011521353.1:c.1657G>A	XP_011519655.1:p.Glu553Lys
XM_011521353.2:c.1657G>A	XP_011519655.1:p.Glu553Lys
XM_011521354.1:c.1207G>A	XP_011519656.1:p.Glu403Lys
XM_011521354.2:c.1207G>A	XP_011519656.1:p.Glu403Lys