Canonical Allele Identifier: CA345353870

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645710A>G (hg19) ; chr1:g.236482410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482410A>G , CM000663.2:g.236482410A>G	GRCh38
NC_000001.10:g.236645710A>G , CM000663.1:g.236645710A>G	GRCh37
NC_000001.9:g.234712333A>G	NCBI36
NG_011566.1:g.93031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.409A>G MANE Select	ENSP00000335076.4:p.Lys137Glu
ENST00000359362.6:c.379A>G	ENSP00000352320.4:p.Lys127Glu
ENST00000637660.1:c.343A>G	ENSP00000490347.1:p.Lys115Glu
ENST00000642595.1:c.236-9327A>G	ENSP00000494458.1:n.236-9327A>G
ENST00000334232.8:c.409A>G	ENSP00000335076.4:p.Lys137Glu
ENST00000359362.5:c.379A>G	ENSP00000352320.4:p.Lys127Glu
NM_080738.3:c.379A>G	NP_542776.1:p.Lys127Glu
NM_145861.2:c.409A>G	NP_665860.2:p.Lys137Glu
NM_080738.4:c.379A>G	NP_542776.1:p.Lys127Glu
NM_145861.4:c.409A>G MANE Select	NP_665860.2:p.Lys137Glu