Canonical Allele Identifier: CA413449357

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255229G>A (hg19) ; chrX:g.70035379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035379G>A , CM000685.2:g.70035379G>A	GRCh38
NC_000023.10:g.69255229G>A , CM000685.1:g.69255229G>A	GRCh37
NC_000023.9:g.69171954G>A	NCBI36
NG_009809.1:g.424319G>A
NG_009809.2:g.424313G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.946G>A MANE Select	ENSP00000363680.4:p.Asp316Asn
ENST00000374552.8:c.946G>A	ENSP00000363680.4:p.Asp316Asn
ENST00000374553.6:c.940G>A	ENSP00000363681.2:p.Asp314Asn
ENST00000524573.5:c.931G>A	ENSP00000432585.1:p.Asp311Asn
ENST00000616899.1:c.550G>A	ENSP00000481963.1:p.Asp184Asn
NM_001005609.1:c.940G>A	NP_001005609.1:p.Asp314Asn
NM_001005612.2:c.931G>A	NP_001005612.2:p.Asp311Asn
NM_001399.4:c.946G>A	NP_001390.1:p.Asp316Asn
XM_006724630.2:c.937G>A	XP_006724693.1:p.Asp313Asn
XM_017029336.1:c.904G>A	XP_016884825.1:p.Asp302Asn
NM_001399.5:c.946G>A MANE Select	NP_001390.1:p.Asp316Asn
NM_001005609.2:c.940G>A	NP_001005609.1:p.Asp314Asn
NM_001005612.3:c.931G>A	NP_001005612.2:p.Asp311Asn