Canonical Allele Identifier: CA345651

Gene: EPB42

Linked Data

• ClinVar Variation Id: 132633
• ClinVar RCV Id: RCV000119050
• dbSNP Id: rs143682977
• ExAC: 15:43503730 C / A
• gnomAD v2: 15-43503730-C-A
• gnomAD v4: 15-43211532-C-A
• MyVariant Identifiers: chr15:g.43503730C>A (hg19) ; chr15:g.43211532C>A (hg38)
• PubMed: PMID:24624460

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43211532C>A , CM000677.2:g.43211532C>A	GRCh38
NC_000015.9:g.43503730C>A , CM000677.1:g.43503730C>A	GRCh37
NC_000015.8:g.41291022C>A	NCBI36
NG_011505.1:g.14594G>T
NG_011505.2:g.19325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.433G>T MANE Select	ENSP00000396616.2:p.Asp145Tyr
ENST00000648595.1:c.523G>T	ENSP00000497777.1:p.Asp175Tyr
ENST00000300215.7:c.523G>T	ENSP00000300215.3:p.Asp175Tyr
ENST00000441366.6:c.433G>T	ENSP00000396616.2:p.Asp145Tyr
ENST00000540029.5:c.199G>T	ENSP00000444699.1:p.Asp67Tyr
ENST00000568508.5:c.292G>T	ENSP00000457140.1:p.Asp98Tyr
ENST00000569204.1:c.97G>T	ENSP00000455489.1:p.Asp33Tyr
ENST00000622454.4:c.433G>T	ENSP00000481226.1:p.Asp145Tyr
NM_000119.2:c.523G>T	NP_000110.2:p.Asp175Tyr
NM_001114134.1:c.433G>T	NP_001107606.1:p.Asp145Tyr
XM_005254225.1:c.433G>T	XP_005254282.1:p.Asp145Tyr
XM_011521349.1:c.523G>T	XP_011519651.1:p.Asp175Tyr
XM_011521350.1:c.523G>T	XP_011519652.1:p.Asp175Tyr
XM_011521351.1:c.523G>T	XP_011519653.1:p.Asp175Tyr
XM_011521352.1:c.487G>T	XP_011519654.1:p.Asp163Tyr
XM_011521353.1:c.523G>T	XP_011519655.1:p.Asp175Tyr
XM_011521354.1:c.-33G>T	XP_011519656.1:n.-33G>T
NM_000119.3:c.523G>T	NP_000110.2:p.Asp175Tyr
XM_011521349.2:c.523G>T	XP_011519651.1:p.Asp175Tyr
XM_011521350.2:c.523G>T	XP_011519652.1:p.Asp175Tyr
XM_011521351.2:c.523G>T	XP_011519653.1:p.Asp175Tyr
XM_011521352.2:c.487G>T	XP_011519654.1:p.Asp163Tyr
XM_011521353.2:c.523G>T	XP_011519655.1:p.Asp175Tyr
XM_011521354.2:c.-33G>T	XP_011519656.1:n.-33G>T
NM_001114134.2:c.433G>T MANE Select	NP_001107606.1:p.Asp145Tyr