Canonical Allele Identifier: CA341253

Gene: EPB42

Linked Data

• ClinVar Variation Id: 13233
• ClinVar RCV Id: RCV000014138 ; RCV003415697
• dbSNP Id: rs104894487
• ExAC: 15:43507389 C / T
• gnomAD v2: 15-43507389-C-T
• gnomAD v3: 15-43215191-C-T
• gnomAD v4: 15-43215191-C-T
• MyVariant Identifiers: chr15:g.43507389C>T (hg19) ; chr15:g.43215191C>T (hg38)
• PubMed: PMID:1558976 ; PMID:8319790 ; PMID:10406914 ; PMID:24624460

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43215191C>T , CM000677.2:g.43215191C>T	GRCh38
NC_000015.9:g.43507389C>T , CM000677.1:g.43507389C>T	GRCh37
NC_000015.8:g.41294681C>T	NCBI36
NG_011505.1:g.10935G>A
NG_011505.2:g.15666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.334G>A MANE Select	ENSP00000396616.2:p.Ala112Thr
ENST00000648595.1:c.424G>A	ENSP00000497777.1:p.Ala142Thr
ENST00000300215.7:c.424G>A	ENSP00000300215.3:p.Ala142Thr
ENST00000441366.6:c.334G>A	ENSP00000396616.2:p.Ala112Thr
ENST00000540029.5:c.196+1077G>A	ENSP00000444699.1:n.196+1077G>A
ENST00000568508.5:c.193G>A	ENSP00000457140.1:p.Ala65Thr
ENST00000622454.4:c.334G>A	ENSP00000481226.1:p.Ala112Thr
NM_000119.2:c.424G>A	NP_000110.2:p.Ala142Thr
NM_001114134.1:c.334G>A	NP_001107606.1:p.Ala112Thr
XM_005254225.1:c.334G>A	XP_005254282.1:p.Ala112Thr
XM_011521349.1:c.424G>A	XP_011519651.1:p.Ala142Thr
XM_011521350.1:c.424G>A	XP_011519652.1:p.Ala142Thr
XM_011521351.1:c.424G>A	XP_011519653.1:p.Ala142Thr
XM_011521352.1:c.424G>A	XP_011519654.1:p.Ala142Thr
XM_011521353.1:c.424G>A	XP_011519655.1:p.Ala142Thr
XM_011521354.1:c.-212G>A	XP_011519656.1:n.-212G>A
NM_000119.3:c.424G>A	NP_000110.2:p.Ala142Thr
XM_011521349.2:c.424G>A	XP_011519651.1:p.Ala142Thr
XM_011521350.2:c.424G>A	XP_011519652.1:p.Ala142Thr
XM_011521351.2:c.424G>A	XP_011519653.1:p.Ala142Thr
XM_011521352.2:c.424G>A	XP_011519654.1:p.Ala142Thr
XM_011521353.2:c.424G>A	XP_011519655.1:p.Ala142Thr
NM_001114134.2:c.334G>A MANE Select	NP_001107606.1:p.Ala112Thr