Canonical Allele Identifier: CA424029797

Gene: EDARADD

Linked Data

• dbSNP Id: rs1659700129
• gnomAD v3: 1-236482313-C-A
• gnomAD v4: 1-236482313-C-A
• MyVariant Identifiers: chr1:g.236645613C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482313C>A , CM000663.2:g.236482313C>A	GRCh38
NC_000001.10:g.236645613C>A , CM000663.1:g.236645613C>A	GRCh37
NC_000001.9:g.234712236C>A	NCBI36
NG_011566.1:g.92934C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334232.9:c.312C>A MANE Select	ENSP00000335076.4:p.Ser104=
ENST00000359362.6:c.282C>A	ENSP00000352320.4:p.Ser94=
ENST00000637660.1:c.246C>A	ENSP00000490347.1:p.Ser82=
ENST00000642595.1:c.236-9424C>A	ENSP00000494458.1:n.236-9424C>A
ENST00000334232.8:c.312C>A	ENSP00000335076.4:p.Ser104=
ENST00000359362.5:c.282C>A	ENSP00000352320.4:p.Ser94=
ENST00000439430.5:c.246C>A	ENSP00000405815.1:p.Ser82=
NM_080738.3:c.282C>A	NP_542776.1:p.Ser94=
NM_145861.2:c.312C>A	NP_665860.2:p.Ser104=
NM_080738.4:c.282C>A	NP_542776.1:p.Ser94=
NM_145861.4:c.312C>A MANE Select	NP_665860.2:p.Ser104=