Canonical Allele Identifier: CA7520721

Gene: EPB42

Linked Data

• ClinVar Variation Id: 255156
• ClinVar RCV Id: RCV000247648 ; RCV000909752 ; RCV001116918
• dbSNP Id: rs149249456
• ExAC: 15:43512935 C / T
• gnomAD v2: 15-43512935-C-T
• gnomAD v3: 15-43220737-C-T
• gnomAD v4: 15-43220737-C-T
• MyVariant Identifiers: chr15:g.43512935C>T (hg19) ; chr15:g.43220737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43220737C>T , CM000677.2:g.43220737C>T	GRCh38
NC_000015.9:g.43512935C>T , CM000677.1:g.43512935C>T	GRCh37
NC_000015.8:g.41300227C>T	NCBI36
NG_011505.1:g.5389G>A
NG_011505.2:g.10120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.10+79G>A MANE Select	ENSP00000396616.2:n.10+79G>A
ENST00000648595.1:c.89G>A	ENSP00000497777.1:p.Ser30Asn
ENST00000300215.7:c.89G>A	ENSP00000300215.3:p.Ser30Asn
ENST00000441366.6:c.10+79G>A	ENSP00000396616.2:n.10+79G>A
ENST00000540029.5:c.10+79G>A	ENSP00000444699.1:n.10+79G>A
ENST00000622454.4:c.10+79G>A	ENSP00000481226.1:n.10+79G>A
NM_000119.2:c.89G>A	NP_000110.2:p.Ser30Asn
NM_001114134.1:c.10+79G>A	NP_001107606.1:n.10+79G>A
XM_005254225.1:c.10+79G>A	XP_005254282.1:n.10+79G>A
XM_011521349.1:c.89G>A	XP_011519651.1:p.Ser30Asn
XM_011521350.1:c.89G>A	XP_011519652.1:p.Ser30Asn
XM_011521351.1:c.89G>A	XP_011519653.1:p.Ser30Asn
XM_011521352.1:c.89G>A	XP_011519654.1:p.Ser30Asn
XM_011521353.1:c.89G>A	XP_011519655.1:p.Ser30Asn
NM_000119.3:c.89G>A	NP_000110.2:p.Ser30Asn
XM_011521349.2:c.89G>A	XP_011519651.1:p.Ser30Asn
XM_011521350.2:c.89G>A	XP_011519652.1:p.Ser30Asn
XM_011521351.2:c.89G>A	XP_011519653.1:p.Ser30Asn
XM_011521352.2:c.89G>A	XP_011519654.1:p.Ser30Asn
XM_011521353.2:c.89G>A	XP_011519655.1:p.Ser30Asn
NM_001114134.2:c.10+79G>A MANE Select	NP_001107606.1:n.10+79G>A