Canonical Allele Identifier: CA413448440

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027988C>G , CM000685.2:g.70027988C>G	GRCh38
NC_000023.10:g.69247838C>G , CM000685.1:g.69247838C>G	GRCh37
NC_000023.9:g.69164563C>G	NCBI36
NG_009809.1:g.416928C>G
NG_009809.2:g.416922C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.658C>G MANE Select	NP_001390.1:p.Pro220Ala
ENST00000374552.9:c.658C>G MANE Select	ENSP00000363680.4:p.Pro220Ala
NM_001005609.1:c.658C>G	NP_001005609.1:p.Pro220Ala
NM_001005609.2:c.658C>G	NP_001005609.1:p.Pro220Ala
NM_001005612.2:c.658C>G	NP_001005612.2:p.Pro220Ala
NM_001005612.3:c.658C>G	NP_001005612.2:p.Pro220Ala
NM_001399.4:c.658C>G	NP_001390.1:p.Pro220Ala
ENST00000374552.8:c.658C>G	ENSP00000363680.4:p.Pro220Ala
ENST00000374553.6:c.658C>G	ENSP00000363681.2:p.Pro220Ala
ENST00000503592.5:c.262C>G	ENSP00000423037.1:p.Pro88Ala
ENST00000524573.5:c.658C>G	ENSP00000432585.1:p.Pro220Ala
ENST00000616899.1:c.262C>G	ENSP00000481963.1:p.Pro88Ala
XM_006724630.2:c.658C>G	XP_006724693.1:p.Pro220Ala
XM_011530885.1:c.658C>G	XP_011529187.1:p.Pro220Ala
XM_011530885.2:c.658C>G	XP_011529187.1:p.Pro220Ala
XM_017029336.1:c.658C>G	XP_016884825.1:p.Pro220Ala