Canonical Allele Identifier: CA7520574

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43210369T>C , CM000677.2:g.43210369T>C	GRCh38
NC_000015.9:g.43502567T>C , CM000677.1:g.43502567T>C	GRCh37
NC_000015.8:g.41289859T>C	NCBI36
NG_011505.1:g.15757A>G
NG_011505.2:g.20488A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.620A>G MANE Select	NP_001107606.1:p.Gln207Arg
ENST00000441366.7:c.620A>G MANE Select	ENSP00000396616.2:p.Gln207Arg
NM_000119.2:c.710A>G	NP_000110.2:p.Gln237Arg
NM_000119.3:c.710A>G	NP_000110.2:p.Gln237Arg
NM_001114134.1:c.620A>G	NP_001107606.1:p.Gln207Arg
ENST00000300215.7:c.710A>G	ENSP00000300215.3:p.Gln237Arg
ENST00000441366.6:c.620A>G	ENSP00000396616.2:p.Gln207Arg
ENST00000540029.5:c.386A>G	ENSP00000444699.1:p.Gln129Arg
ENST00000568508.5:c.479A>G	ENSP00000457140.1:p.Gln160Arg
ENST00000569204.1:c.214-918A>G	ENSP00000455489.1:n.214-918A>G
ENST00000622454.4:c.620A>G	ENSP00000481226.1:p.Gln207Arg
ENST00000648595.1:c.710A>G	ENSP00000497777.1:p.Gln237Arg
XM_005254225.1:c.550-918A>G	XP_005254282.1:n.550-918A>G
XM_011521349.1:c.710A>G	XP_011519651.1:p.Gln237Arg
XM_011521349.2:c.710A>G	XP_011519651.1:p.Gln237Arg
XM_011521350.1:c.710A>G	XP_011519652.1:p.Gln237Arg
XM_011521350.2:c.710A>G	XP_011519652.1:p.Gln237Arg
XM_011521351.1:c.710A>G	XP_011519653.1:p.Gln237Arg
XM_011521351.2:c.710A>G	XP_011519653.1:p.Gln237Arg
XM_011521352.1:c.674A>G	XP_011519654.1:p.Gln225Arg
XM_011521352.2:c.674A>G	XP_011519654.1:p.Gln225Arg
XM_011521353.1:c.640-918A>G	XP_011519655.1:n.640-918A>G
XM_011521353.2:c.640-918A>G	XP_011519655.1:n.640-918A>G
XM_011521354.1:c.155A>G	XP_011519656.1:p.Gln52Arg
XM_011521354.2:c.155A>G	XP_011519656.1:p.Gln52Arg