Canonical Allele Identifier: CA345353489

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645607T>G (hg19) ; chr1:g.236482307T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482307T>G , CM000663.2:g.236482307T>G	GRCh38
NC_000001.10:g.236645607T>G , CM000663.1:g.236645607T>G	GRCh37
NC_000001.9:g.234712230T>G	NCBI36
NG_011566.1:g.92928T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334232.9:c.306T>G MANE Select	ENSP00000335076.4:p.Cys102Trp
ENST00000359362.6:c.276T>G	ENSP00000352320.4:p.Cys92Trp
ENST00000637660.1:c.240T>G	ENSP00000490347.1:p.Cys80Trp
ENST00000642595.1:c.236-9430T>G	ENSP00000494458.1:n.236-9430T>G
ENST00000334232.8:c.306T>G	ENSP00000335076.4:p.Cys102Trp
ENST00000359362.5:c.276T>G	ENSP00000352320.4:p.Cys92Trp
ENST00000439430.5:c.240T>G	ENSP00000405815.1:p.Cys80Trp
NM_080738.3:c.276T>G	NP_542776.1:p.Cys92Trp
NM_145861.2:c.306T>G	NP_665860.2:p.Cys102Trp
NM_080738.4:c.276T>G	NP_542776.1:p.Cys92Trp
NM_145861.4:c.306T>G MANE Select	NP_665860.2:p.Cys102Trp