Canonical Allele Identifier: CA345353658

Gene: EDARADD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482360A>C , CM000663.2:g.236482360A>C	GRCh38
NC_000001.10:g.236645660A>C , CM000663.1:g.236645660A>C	GRCh37
NC_000001.9:g.234712283A>C	NCBI36
NG_011566.1:g.92981A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_145861.4:c.359A>C MANE Select	NP_665860.2:p.Asp120Ala
ENST00000334232.9:c.359A>C MANE Select	ENSP00000335076.4:p.Asp120Ala
NM_080738.3:c.329A>C	NP_542776.1:p.Asp110Ala
NM_080738.4:c.329A>C	NP_542776.1:p.Asp110Ala
NM_145861.2:c.359A>C	NP_665860.2:p.Asp120Ala
ENST00000334232.8:c.359A>C	ENSP00000335076.4:p.Asp120Ala
ENST00000359362.5:c.329A>C	ENSP00000352320.4:p.Asp110Ala
ENST00000359362.6:c.329A>C	ENSP00000352320.4:p.Asp110Ala
ENST00000637660.1:c.293A>C	ENSP00000490347.1:p.Asp98Ala
ENST00000642595.1:c.236-9377A>C	ENSP00000494458.1:n.236-9377A>C