Canonical Allele Identifier: CA345355148

Gene: EDARADD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482571C>G , CM000663.2:g.236482571C>G	GRCh38
NC_000001.10:g.236645871C>G , CM000663.1:g.236645871C>G	GRCh37
NC_000001.9:g.234712494C>G	NCBI36
NG_011566.1:g.93192C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_145861.4:c.570C>G MANE Select	NP_665860.2:p.Asp190Glu
ENST00000334232.9:c.570C>G MANE Select	ENSP00000335076.4:p.Asp190Glu
NM_080738.3:c.540C>G	NP_542776.1:p.Asp180Glu
NM_080738.4:c.540C>G	NP_542776.1:p.Asp180Glu
NM_145861.2:c.570C>G	NP_665860.2:p.Asp190Glu
ENST00000334232.8:c.570C>G	ENSP00000335076.4:p.Asp190Glu
ENST00000359362.5:c.540C>G	ENSP00000352320.4:p.Asp180Glu
ENST00000359362.6:c.540C>G	ENSP00000352320.4:p.Asp180Glu
ENST00000637660.1:c.504C>G	ENSP00000490347.1:p.Asp168Glu
ENST00000642595.1:c.236-9166C>G	ENSP00000494458.1:n.236-9166C>G