Canonical Allele Identifier: CA345354235

Gene: EDARADD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482470G>A , CM000663.2:g.236482470G>A	GRCh38
NC_000001.10:g.236645770G>A , CM000663.1:g.236645770G>A	GRCh37
NC_000001.9:g.234712393G>A	NCBI36
NG_011566.1:g.93091G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145861.4:c.469G>A MANE Select	NP_665860.2:p.Glu157Lys
ENST00000334232.9:c.469G>A MANE Select	ENSP00000335076.4:p.Glu157Lys
NM_080738.3:c.439G>A	NP_542776.1:p.Glu147Lys
NM_080738.4:c.439G>A	NP_542776.1:p.Glu147Lys
NM_145861.2:c.469G>A	NP_665860.2:p.Glu157Lys
ENST00000334232.8:c.469G>A	ENSP00000335076.4:p.Glu157Lys
ENST00000359362.5:c.439G>A	ENSP00000352320.4:p.Glu147Lys
ENST00000359362.6:c.439G>A	ENSP00000352320.4:p.Glu147Lys
ENST00000637660.1:c.403G>A	ENSP00000490347.1:p.Glu135Lys
ENST00000642595.1:c.236-9267G>A	ENSP00000494458.1:n.236-9267G>A