Canonical Allele Identifier: CA7520423

Gene: EPB42

Linked Data

• ClinVar Variation Id: 316019
• ClinVar RCV Id: RCV000267602 ; RCV000889759
• dbSNP Id: rs116484797
• ExAC: 15:43500478 C / T
• gnomAD v2: 15-43500478-C-T
• gnomAD v3: 15-43208280-C-T
• gnomAD v4: 15-43208280-C-T
• MyVariant Identifiers: chr15:g.43500478C>T (hg19) ; chr15:g.43208280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43208280C>T , CM000677.2:g.43208280C>T	GRCh38
NC_000015.9:g.43500478C>T , CM000677.1:g.43500478C>T	GRCh37
NC_000015.8:g.41287770C>T	NCBI36
NG_011505.1:g.17846G>A
NG_011505.2:g.22577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1025G>A MANE Select	ENSP00000396616.2:p.Gly342Asp
ENST00000567019.2:n.531G>A
ENST00000648595.1:c.1115G>A	ENSP00000497777.1:p.Gly372Asp
ENST00000300215.7:c.1115G>A	ENSP00000300215.3:p.Gly372Asp
ENST00000441366.6:c.1025G>A	ENSP00000396616.2:p.Gly342Asp
ENST00000540029.5:c.791G>A	ENSP00000444699.1:p.Gly264Asp
ENST00000567019.1:n.540G>A
ENST00000568508.5:c.884G>A	ENSP00000457140.1:p.Gly295Asp
ENST00000622454.4:c.971+357G>A	ENSP00000481226.1:n.971+357G>A
NM_000119.2:c.1115G>A	NP_000110.2:p.Gly372Asp
NM_001114134.1:c.1025G>A	NP_001107606.1:p.Gly342Asp
XM_005254225.1:c.920G>A	XP_005254282.1:p.Gly307Asp
XM_011521349.1:c.1115G>A	XP_011519651.1:p.Gly372Asp
XM_011521350.1:c.1115G>A	XP_011519652.1:p.Gly372Asp
XM_011521351.1:c.1115G>A	XP_011519653.1:p.Gly372Asp
XM_011521352.1:c.1079G>A	XP_011519654.1:p.Gly360Asp
XM_011521353.1:c.1010G>A	XP_011519655.1:p.Gly337Asp
XM_011521354.1:c.560G>A	XP_011519656.1:p.Gly187Asp
NM_000119.3:c.1115G>A	NP_000110.2:p.Gly372Asp
XM_011521349.2:c.1115G>A	XP_011519651.1:p.Gly372Asp
XM_011521350.2:c.1115G>A	XP_011519652.1:p.Gly372Asp
XM_011521351.2:c.1115G>A	XP_011519653.1:p.Gly372Asp
XM_011521352.2:c.1079G>A	XP_011519654.1:p.Gly360Asp
XM_011521353.2:c.1010G>A	XP_011519655.1:p.Gly337Asp
XM_011521354.2:c.560G>A	XP_011519656.1:p.Gly187Asp
NM_001114134.2:c.1025G>A MANE Select	NP_001107606.1:p.Gly342Asp