Canonical Allele Identifier: CA413449826

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035445A>G , CM000685.2:g.70035445A>G	GRCh38
NC_000023.10:g.69255295A>G , CM000685.1:g.69255295A>G	GRCh37
NC_000023.9:g.69172020A>G	NCBI36
NG_009809.1:g.424385A>G
NG_009809.2:g.424379A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1012A>G MANE Select	NP_001390.1:p.Thr338Ala
ENST00000374552.9:c.1012A>G MANE Select	ENSP00000363680.4:p.Thr338Ala
NM_001005609.1:c.1006A>G	NP_001005609.1:p.Thr336Ala
NM_001005609.2:c.1006A>G	NP_001005609.1:p.Thr336Ala
NM_001005612.2:c.997A>G	NP_001005612.2:p.Thr333Ala
NM_001005612.3:c.997A>G	NP_001005612.2:p.Thr333Ala
NM_001399.4:c.1012A>G	NP_001390.1:p.Thr338Ala
ENST00000374552.8:c.1012A>G	ENSP00000363680.4:p.Thr338Ala
ENST00000374553.6:c.1006A>G	ENSP00000363681.2:p.Thr336Ala
ENST00000524573.5:c.997A>G	ENSP00000432585.1:p.Thr333Ala
ENST00000616899.1:c.616A>G	ENSP00000481963.1:p.Thr206Ala
XM_006724630.2:c.1003A>G	XP_006724693.1:p.Thr335Ala
XM_017029336.1:c.970A>G	XP_016884825.1:p.Thr324Ala