Canonical Allele Identifier: CA256740

Gene: EPB42

Linked Data

• ClinVar Variation Id: 13236
• ClinVar RCV Id: RCV000014141
• dbSNP Id: rs266257355
• gnomAD v4: 15-43209273-C-T
• MyVariant Identifiers: chr15:g.43501471C>T (hg19) ; chr15:g.43209273C>T (hg38)
• PubMed: PMID:8528207

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43209273C>T , CM000677.2:g.43209273C>T	GRCh38
NC_000015.9:g.43501471C>T , CM000677.1:g.43501471C>T	GRCh37
NC_000015.8:g.41288763C>T	NCBI36
NG_011505.1:g.16853G>A
NG_011505.2:g.21584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.832+1G>A MANE Select	ENSP00000396616.2:n.832+1G>A
ENST00000567019.2:n.338+1G>A
ENST00000648595.1:c.922+1G>A	ENSP00000497777.1:n.922+1G>A
ENST00000300215.7:c.922+1G>A	ENSP00000300215.3:n.922+1G>A
ENST00000441366.6:c.832+1G>A	ENSP00000396616.2:n.832+1G>A
ENST00000540029.5:c.598+1G>A	ENSP00000444699.1:n.598+1G>A
ENST00000567019.1:n.347+1G>A
ENST00000568508.5:c.691+1G>A	ENSP00000457140.1:n.691+1G>A
ENST00000569204.1:c.391+1G>A	ENSP00000455489.1:n.391+1G>A
ENST00000622454.4:c.832+1G>A	ENSP00000481226.1:n.832+1G>A
NM_000119.2:c.922+1G>A	NP_000110.2:n.922+1G>A
NM_001114134.1:c.832+1G>A	NP_001107606.1:n.832+1G>A
XM_005254225.1:c.727+1G>A	XP_005254282.1:n.727+1G>A
XM_011521349.1:c.922+1G>A	XP_011519651.1:n.922+1G>A
XM_011521350.1:c.922+1G>A	XP_011519652.1:n.922+1G>A
XM_011521351.1:c.922+1G>A	XP_011519653.1:n.922+1G>A
XM_011521352.1:c.886+1G>A	XP_011519654.1:n.886+1G>A
XM_011521353.1:c.817+1G>A	XP_011519655.1:n.817+1G>A
XM_011521354.1:c.367+1G>A	XP_011519656.1:n.367+1G>A
NM_000119.3:c.922+1G>A	NP_000110.2:n.922+1G>A
XM_011521349.2:c.922+1G>A	XP_011519651.1:n.922+1G>A
XM_011521350.2:c.922+1G>A	XP_011519652.1:n.922+1G>A
XM_011521351.2:c.922+1G>A	XP_011519653.1:n.922+1G>A
XM_011521352.2:c.886+1G>A	XP_011519654.1:n.886+1G>A
XM_011521353.2:c.817+1G>A	XP_011519655.1:n.817+1G>A
XM_011521354.2:c.367+1G>A	XP_011519656.1:n.367+1G>A
NM_001114134.2:c.832+1G>A MANE Select	NP_001107606.1:n.832+1G>A