Canonical Allele Identifier: CA413449944

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035462C>G , CM000685.2:g.70035462C>G	GRCh38
NC_000023.10:g.69255312C>G , CM000685.1:g.69255312C>G	GRCh37
NC_000023.9:g.69172037C>G	NCBI36
NG_009809.1:g.424402C>G
NG_009809.2:g.424396C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1029C>G MANE Select	NP_001390.1:p.Tyr343Ter
ENST00000374552.9:c.1029C>G MANE Select	ENSP00000363680.4:p.Tyr343Ter
NM_001005609.1:c.1023C>G	NP_001005609.1:p.Tyr341Ter
NM_001005609.2:c.1023C>G	NP_001005609.1:p.Tyr341Ter
NM_001005612.2:c.1014C>G	NP_001005612.2:p.Tyr338Ter
NM_001005612.3:c.1014C>G	NP_001005612.2:p.Tyr338Ter
NM_001399.4:c.1029C>G	NP_001390.1:p.Tyr343Ter
ENST00000374552.8:c.1029C>G	ENSP00000363680.4:p.Tyr343Ter
ENST00000374553.6:c.1023C>G	ENSP00000363681.2:p.Tyr341Ter
ENST00000524573.5:c.1014C>G	ENSP00000432585.1:p.Tyr338Ter
ENST00000616899.1:c.633C>G	ENSP00000481963.1:p.Tyr211Ter
XM_006724630.2:c.1020C>G	XP_006724693.1:p.Tyr340Ter
XM_017029336.1:c.987C>G	XP_016884825.1:p.Tyr329Ter