Canonical Allele Identifier: CA39702020

Gene: EDARADD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482393C>T , CM000663.2:g.236482393C>T	GRCh38
NC_000001.10:g.236645693C>T , CM000663.1:g.236645693C>T	GRCh37
NC_000001.9:g.234712316C>T	NCBI36
NG_011566.1:g.93014C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145861.4:c.392C>T MANE Select	NP_665860.2:p.Pro131Leu
ENST00000334232.9:c.392C>T MANE Select	ENSP00000335076.4:p.Pro131Leu
NM_080738.3:c.362C>T	NP_542776.1:p.Pro121Leu
NM_080738.4:c.362C>T	NP_542776.1:p.Pro121Leu
NM_145861.2:c.392C>T	NP_665860.2:p.Pro131Leu
ENST00000334232.8:c.392C>T	ENSP00000335076.4:p.Pro131Leu
ENST00000359362.5:c.362C>T	ENSP00000352320.4:p.Pro121Leu
ENST00000359362.6:c.362C>T	ENSP00000352320.4:p.Pro121Leu
ENST00000637660.1:c.326C>T	ENSP00000490347.1:p.Pro109Leu
ENST00000642595.1:c.236-9344C>T	ENSP00000494458.1:n.236-9344C>T