Canonical Allele Identifier: CA413449287

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255218T>A (hg19) ; chrX:g.70035368T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035368T>A , CM000685.2:g.70035368T>A	GRCh38
NC_000023.10:g.69255218T>A , CM000685.1:g.69255218T>A	GRCh37
NC_000023.9:g.69171943T>A	NCBI36
NG_009809.1:g.424308T>A
NG_009809.2:g.424302T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.935T>A MANE Select	ENSP00000363680.4:p.Ile312Asn
ENST00000374552.8:c.935T>A	ENSP00000363680.4:p.Ile312Asn
ENST00000374553.6:c.929T>A	ENSP00000363681.2:p.Ile310Asn
ENST00000524573.5:c.920T>A	ENSP00000432585.1:p.Ile307Asn
ENST00000616899.1:c.539T>A	ENSP00000481963.1:p.Ile180Asn
NM_001005609.1:c.929T>A	NP_001005609.1:p.Ile310Asn
NM_001005612.2:c.920T>A	NP_001005612.2:p.Ile307Asn
NM_001399.4:c.935T>A	NP_001390.1:p.Ile312Asn
XM_006724630.2:c.926T>A	XP_006724693.1:p.Ile309Asn
XM_017029336.1:c.893T>A	XP_016884825.1:p.Ile298Asn
NM_001399.5:c.935T>A MANE Select	NP_001390.1:p.Ile312Asn
NM_001005609.2:c.929T>A	NP_001005609.1:p.Ile310Asn
NM_001005612.3:c.920T>A	NP_001005612.2:p.Ile307Asn