Canonical Allele Identifier: CA424029799

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645613C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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