Canonical Allele Identifier: CA7520606

Gene: EPB42

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43211512A>G , CM000677.2:g.43211512A>G	GRCh38
NC_000015.9:g.43503710A>G , CM000677.1:g.43503710A>G	GRCh37
NC_000015.8:g.41291002A>G	NCBI36
NG_011505.1:g.14614T>C
NG_011505.2:g.19345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.453T>C MANE Select	ENSP00000396616.2:p.Asn151=
ENST00000648595.1:c.543T>C	ENSP00000497777.1:p.Asn181=
ENST00000300215.7:c.543T>C	ENSP00000300215.3:p.Asn181=
ENST00000441366.6:c.453T>C	ENSP00000396616.2:p.Asn151=
ENST00000540029.5:c.219T>C	ENSP00000444699.1:p.Asn73=
ENST00000568508.5:c.312T>C	ENSP00000457140.1:p.Asn104=
ENST00000569204.1:c.117T>C	ENSP00000455489.1:p.Asn39=
ENST00000622454.4:c.453T>C	ENSP00000481226.1:p.Asn151=
NM_000119.2:c.543T>C	NP_000110.2:p.Asn181=
NM_001114134.1:c.453T>C	NP_001107606.1:p.Asn151=
XM_005254225.1:c.453T>C	XP_005254282.1:p.Asn151=
XM_011521349.1:c.543T>C	XP_011519651.1:p.Asn181=
XM_011521350.1:c.543T>C	XP_011519652.1:p.Asn181=
XM_011521351.1:c.543T>C	XP_011519653.1:p.Asn181=
XM_011521352.1:c.507T>C	XP_011519654.1:p.Asn169=
XM_011521353.1:c.543T>C	XP_011519655.1:p.Asn181=
XM_011521354.1:c.-13T>C	XP_011519656.1:n.-13T>C
NM_000119.3:c.543T>C	NP_000110.2:p.Asn181=
XM_011521349.2:c.543T>C	XP_011519651.1:p.Asn181=
XM_011521350.2:c.543T>C	XP_011519652.1:p.Asn181=
XM_011521351.2:c.543T>C	XP_011519653.1:p.Asn181=
XM_011521352.2:c.507T>C	XP_011519654.1:p.Asn169=
XM_011521353.2:c.543T>C	XP_011519655.1:p.Asn181=
XM_011521354.2:c.-13T>C	XP_011519656.1:n.-13T>C
NM_001114134.2:c.453T>C MANE Select	NP_001107606.1:p.Asn151=