Canonical Allele Identifier: CA413449271

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255217A>T (hg19) ; chrX:g.70035367A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035367A>T , CM000685.2:g.70035367A>T	GRCh38
NC_000023.10:g.69255217A>T , CM000685.1:g.69255217A>T	GRCh37
NC_000023.9:g.69171942A>T	NCBI36
NG_009809.1:g.424307A>T
NG_009809.2:g.424301A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.934A>T MANE Select	ENSP00000363680.4:p.Ile312Phe
ENST00000374552.8:c.934A>T	ENSP00000363680.4:p.Ile312Phe
ENST00000374553.6:c.928A>T	ENSP00000363681.2:p.Ile310Phe
ENST00000524573.5:c.919A>T	ENSP00000432585.1:p.Ile307Phe
ENST00000616899.1:c.538A>T	ENSP00000481963.1:p.Ile180Phe
NM_001005609.1:c.928A>T	NP_001005609.1:p.Ile310Phe
NM_001005612.2:c.919A>T	NP_001005612.2:p.Ile307Phe
NM_001399.4:c.934A>T	NP_001390.1:p.Ile312Phe
XM_006724630.2:c.925A>T	XP_006724693.1:p.Ile309Phe
XM_017029336.1:c.892A>T	XP_016884825.1:p.Ile298Phe
NM_001399.5:c.934A>T MANE Select	NP_001390.1:p.Ile312Phe
NM_001005609.2:c.928A>T	NP_001005609.1:p.Ile310Phe
NM_001005612.3:c.919A>T	NP_001005612.2:p.Ile307Phe