Canonical Allele Identifier: CA345353853

Gene: EDARADD

Linked Data

• COSMIC: COSM1185796
• MyVariant Identifiers: chr1:g.236645705C>A (hg19) ; chr1:g.236482405C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482405C>A , CM000663.2:g.236482405C>A	GRCh38
NC_000001.10:g.236645705C>A , CM000663.1:g.236645705C>A	GRCh37
NC_000001.9:g.234712328C>A	NCBI36
NG_011566.1:g.93026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.404C>A MANE Select	ENSP00000335076.4:p.Thr135Lys
ENST00000359362.6:c.374C>A	ENSP00000352320.4:p.Thr125Lys
ENST00000637660.1:c.338C>A	ENSP00000490347.1:p.Thr113Lys
ENST00000642595.1:c.236-9332C>A	ENSP00000494458.1:n.236-9332C>A
ENST00000334232.8:c.404C>A	ENSP00000335076.4:p.Thr135Lys
ENST00000359362.5:c.374C>A	ENSP00000352320.4:p.Thr125Lys
NM_080738.3:c.374C>A	NP_542776.1:p.Thr125Lys
NM_145861.2:c.404C>A	NP_665860.2:p.Thr135Lys
NM_080738.4:c.374C>A	NP_542776.1:p.Thr125Lys
NM_145861.4:c.404C>A MANE Select	NP_665860.2:p.Thr135Lys