Canonical Allele Identifier: CA413449228

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035361T>G , CM000685.2:g.70035361T>G	GRCh38
NC_000023.10:g.69255211T>G , CM000685.1:g.69255211T>G	GRCh37
NC_000023.9:g.69171936T>G	NCBI36
NG_009809.1:g.424301T>G
NG_009809.2:g.424295T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.928T>G MANE Select	NP_001390.1:p.Tyr310Asp
ENST00000374552.9:c.928T>G MANE Select	ENSP00000363680.4:p.Tyr310Asp
NM_001005609.1:c.922T>G	NP_001005609.1:p.Tyr308Asp
NM_001005609.2:c.922T>G	NP_001005609.1:p.Tyr308Asp
NM_001005612.2:c.913T>G	NP_001005612.2:p.Tyr305Asp
NM_001005612.3:c.913T>G	NP_001005612.2:p.Tyr305Asp
NM_001399.4:c.928T>G	NP_001390.1:p.Tyr310Asp
ENST00000374552.8:c.928T>G	ENSP00000363680.4:p.Tyr310Asp
ENST00000374553.6:c.922T>G	ENSP00000363681.2:p.Tyr308Asp
ENST00000524573.5:c.913T>G	ENSP00000432585.1:p.Tyr305Asp
ENST00000616899.1:c.532T>G	ENSP00000481963.1:p.Tyr178Asp
XM_006724630.2:c.919T>G	XP_006724693.1:p.Tyr307Asp
XM_017029336.1:c.886T>G	XP_016884825.1:p.Tyr296Asp