Canonical Allele Identifier: CA7520250

Gene: EPB42

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43203233C>T , CM000677.2:g.43203233C>T	GRCh38
NC_000015.9:g.43495431C>T , CM000677.1:g.43495431C>T	GRCh37
NC_000015.8:g.41282723C>T	NCBI36
NG_011505.1:g.22893G>A
NG_011505.2:g.27624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1661G>A MANE Select	ENSP00000396616.2:p.Arg554Gln
ENST00000567019.2:n.1167G>A
ENST00000648595.1:c.1751G>A	ENSP00000497777.1:p.Arg584Gln
ENST00000300215.7:c.1751G>A	ENSP00000300215.3:p.Arg584Gln
ENST00000441366.6:c.1661G>A	ENSP00000396616.2:p.Arg554Gln
ENST00000540029.5:c.1427G>A	ENSP00000444699.1:p.Arg476Gln
ENST00000563128.5:n.195G>A
ENST00000567019.1:n.1176G>A
ENST00000568508.5:c.1478-1256G>A	ENSP00000457140.1:n.1478-1256G>A
ENST00000622454.4:c.1445G>A	ENSP00000481226.1:p.Arg482Gln
NM_000119.2:c.1751G>A	NP_000110.2:p.Arg584Gln
NM_001114134.1:c.1661G>A	NP_001107606.1:p.Arg554Gln
XM_005254225.1:c.1556G>A	XP_005254282.1:p.Arg519Gln
XM_011521349.1:c.1751G>A	XP_011519651.1:p.Arg584Gln
XM_011521350.1:c.1751G>A	XP_011519652.1:p.Arg584Gln
XM_011521351.1:c.1751G>A	XP_011519653.1:p.Arg584Gln
XM_011521352.1:c.1715G>A	XP_011519654.1:p.Arg572Gln
XM_011521353.1:c.1646G>A	XP_011519655.1:p.Arg549Gln
XM_011521354.1:c.1196G>A	XP_011519656.1:p.Arg399Gln
NM_000119.3:c.1751G>A	NP_000110.2:p.Arg584Gln
XM_011521349.2:c.1751G>A	XP_011519651.1:p.Arg584Gln
XM_011521350.2:c.1751G>A	XP_011519652.1:p.Arg584Gln
XM_011521351.2:c.1751G>A	XP_011519653.1:p.Arg584Gln
XM_011521352.2:c.1715G>A	XP_011519654.1:p.Arg572Gln
XM_011521353.2:c.1646G>A	XP_011519655.1:p.Arg549Gln
XM_011521354.2:c.1196G>A	XP_011519656.1:p.Arg399Gln
NM_001114134.2:c.1661G>A MANE Select	NP_001107606.1:p.Arg554Gln