Canonical Allele Identifier: CA1470079

Gene: EDARADD

Linked Data

• dbSNP Id: rs777172467
• ExAC: 1:236645706 G / A
• gnomAD v2: 1-236645706-G-A
• gnomAD v3: 1-236482406-G-A
• gnomAD v4: 1-236482406-G-A
• MyVariant Identifiers: chr1:g.236645706G>A (hg19) ; chr1:g.236482406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482406G>A , CM000663.2:g.236482406G>A	GRCh38
NC_000001.10:g.236645706G>A , CM000663.1:g.236645706G>A	GRCh37
NC_000001.9:g.234712329G>A	NCBI36
NG_011566.1:g.93027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.405G>A MANE Select	ENSP00000335076.4:p.Thr135=
ENST00000359362.6:c.375G>A	ENSP00000352320.4:p.Thr125=
ENST00000637660.1:c.339G>A	ENSP00000490347.1:p.Thr113=
ENST00000642595.1:c.236-9331G>A	ENSP00000494458.1:n.236-9331G>A
ENST00000334232.8:c.405G>A	ENSP00000335076.4:p.Thr135=
ENST00000359362.5:c.375G>A	ENSP00000352320.4:p.Thr125=
NM_080738.3:c.375G>A	NP_542776.1:p.Thr125=
NM_145861.2:c.405G>A	NP_665860.2:p.Thr135=
NM_080738.4:c.375G>A	NP_542776.1:p.Thr125=
NM_145861.4:c.405G>A MANE Select	NP_665860.2:p.Thr135=