Canonical Allele Identifier: CA413448973

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033500G>A , CM000685.2:g.70033500G>A	GRCh38
NC_000023.10:g.69253350G>A , CM000685.1:g.69253350G>A	GRCh37
NC_000023.9:g.69170075G>A	NCBI36
NG_009809.1:g.422440G>A
NG_009809.2:g.422434G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.896G>A MANE Select	NP_001390.1:p.Gly299Asp
ENST00000374552.9:c.896G>A MANE Select	ENSP00000363680.4:p.Gly299Asp
NM_001005609.1:c.896G>A	NP_001005609.1:p.Gly299Asp
NM_001005609.2:c.896G>A	NP_001005609.1:p.Gly299Asp
NM_001005612.2:c.887G>A	NP_001005612.2:p.Gly296Asp
NM_001005612.3:c.887G>A	NP_001005612.2:p.Gly296Asp
NM_001399.4:c.896G>A	NP_001390.1:p.Gly299Asp
ENST00000374552.8:c.896G>A	ENSP00000363680.4:p.Gly299Asp
ENST00000374553.6:c.896G>A	ENSP00000363681.2:p.Gly299Asp
ENST00000524573.5:c.887G>A	ENSP00000432585.1:p.Gly296Asp
ENST00000616899.1:c.500G>A	ENSP00000481963.1:p.Gly167Asp
XM_006724630.2:c.887G>A	XP_006724693.1:p.Gly296Asp
XM_011530885.1:c.896G>A	XP_011529187.1:p.Gly299Asp
XM_011530885.2:c.896G>A	XP_011529187.1:p.Gly299Asp
XM_017029336.1:c.882+14G>A	XP_016884825.1:n.882+14G>A