Canonical Allele Identifier: CA256741

Gene: EPB42

Linked Data

• ClinVar Variation Id: 13237
• ClinVar RCV Id: RCV000014142
• dbSNP Id: rs115998465
• MyVariant Identifiers: chr15:g.43495435C>A (hg19) ; chr15:g.43203237C>A (hg38)
• PubMed: PMID:12176912

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43203237C>A , CM000677.2:g.43203237C>A	GRCh38
NC_000015.9:g.43495435C>A , CM000677.1:g.43495435C>A	GRCh37
NC_000015.8:g.41282727C>A	NCBI36
NG_011505.1:g.22889G>T
NG_011505.2:g.27620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1657G>T MANE Select	ENSP00000396616.2:p.Glu553Ter
ENST00000567019.2:n.1163G>T
ENST00000648595.1:c.1747G>T	ENSP00000497777.1:p.Glu583Ter
ENST00000300215.7:c.1747G>T	ENSP00000300215.3:p.Glu583Ter
ENST00000441366.6:c.1657G>T	ENSP00000396616.2:p.Glu553Ter
ENST00000540029.5:c.1423G>T	ENSP00000444699.1:p.Glu475Ter
ENST00000563128.5:n.191G>T
ENST00000567019.1:n.1172G>T
ENST00000568508.5:c.1478-1260G>T	ENSP00000457140.1:n.1478-1260G>T
ENST00000622454.4:c.1441G>T	ENSP00000481226.1:p.Glu481Ter
NM_000119.2:c.1747G>T	NP_000110.2:p.Glu583Ter
NM_001114134.1:c.1657G>T	NP_001107606.1:p.Glu553Ter
XM_005254225.1:c.1552G>T	XP_005254282.1:p.Glu518Ter
XM_011521349.1:c.1747G>T	XP_011519651.1:p.Glu583Ter
XM_011521350.1:c.1747G>T	XP_011519652.1:p.Glu583Ter
XM_011521351.1:c.1747G>T	XP_011519653.1:p.Glu583Ter
XM_011521352.1:c.1711G>T	XP_011519654.1:p.Glu571Ter
XM_011521353.1:c.1642G>T	XP_011519655.1:p.Glu548Ter
XM_011521354.1:c.1192G>T	XP_011519656.1:p.Glu398Ter
NM_000119.3:c.1747G>T	NP_000110.2:p.Glu583Ter
XM_011521349.2:c.1747G>T	XP_011519651.1:p.Glu583Ter
XM_011521350.2:c.1747G>T	XP_011519652.1:p.Glu583Ter
XM_011521351.2:c.1747G>T	XP_011519653.1:p.Glu583Ter
XM_011521352.2:c.1711G>T	XP_011519654.1:p.Glu571Ter
XM_011521353.2:c.1642G>T	XP_011519655.1:p.Glu548Ter
XM_011521354.2:c.1192G>T	XP_011519656.1:p.Glu398Ter
NM_001114134.2:c.1657G>T MANE Select	NP_001107606.1:p.Glu553Ter