Canonical Allele Identifier: CA7520419

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43208264C>A , CM000677.2:g.43208264C>A	GRCh38
NC_000015.9:g.43500462C>A , CM000677.1:g.43500462C>A	GRCh37
NC_000015.8:g.41287754C>A	NCBI36
NG_011505.1:g.17862G>T
NG_011505.2:g.22593G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.1041G>T MANE Select	NP_001107606.1:p.Gln347His
ENST00000441366.7:c.1041G>T MANE Select	ENSP00000396616.2:p.Gln347His
NM_000119.2:c.1131G>T	NP_000110.2:p.Gln377His
NM_000119.3:c.1131G>T	NP_000110.2:p.Gln377His
NM_001114134.1:c.1041G>T	NP_001107606.1:p.Gln347His
ENST00000300215.7:c.1131G>T	ENSP00000300215.3:p.Gln377His
ENST00000441366.6:c.1041G>T	ENSP00000396616.2:p.Gln347His
ENST00000540029.5:c.807G>T	ENSP00000444699.1:p.Gln269His
ENST00000567019.1:n.556G>T
ENST00000567019.2:n.547G>T
ENST00000568508.5:c.900G>T	ENSP00000457140.1:p.Gln300His
ENST00000622454.4:c.971+373G>T	ENSP00000481226.1:n.971+373G>T
ENST00000648595.1:c.1131G>T	ENSP00000497777.1:p.Gln377His
XM_005254225.1:c.936G>T	XP_005254282.1:p.Gln312His
XM_011521349.1:c.1131G>T	XP_011519651.1:p.Gln377His
XM_011521349.2:c.1131G>T	XP_011519651.1:p.Gln377His
XM_011521350.1:c.1131G>T	XP_011519652.1:p.Gln377His
XM_011521350.2:c.1131G>T	XP_011519652.1:p.Gln377His
XM_011521351.1:c.1131G>T	XP_011519653.1:p.Gln377His
XM_011521351.2:c.1131G>T	XP_011519653.1:p.Gln377His
XM_011521352.1:c.1095G>T	XP_011519654.1:p.Gln365His
XM_011521352.2:c.1095G>T	XP_011519654.1:p.Gln365His
XM_011521353.1:c.1026G>T	XP_011519655.1:p.Gln342His
XM_011521353.2:c.1026G>T	XP_011519655.1:p.Gln342His
XM_011521354.1:c.576G>T	XP_011519656.1:p.Gln192His
XM_011521354.2:c.576G>T	XP_011519656.1:p.Gln192His