Canonical Allele Identifier: CA413449326

Gene: EDA

Linked Data

• gnomAD v4: X-70035373-T-C
• MyVariant Identifiers: chrX:g.69255223T>C (hg19) ; chrX:g.70035373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035373T>C , CM000685.2:g.70035373T>C	GRCh38
NC_000023.10:g.69255223T>C , CM000685.1:g.69255223T>C	GRCh37
NC_000023.9:g.69171948T>C	NCBI36
NG_009809.1:g.424313T>C
NG_009809.2:g.424307T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.940T>C MANE Select	ENSP00000363680.4:p.Phe314Leu
ENST00000374552.8:c.940T>C	ENSP00000363680.4:p.Phe314Leu
ENST00000374553.6:c.934T>C	ENSP00000363681.2:p.Phe312Leu
ENST00000524573.5:c.925T>C	ENSP00000432585.1:p.Phe309Leu
ENST00000616899.1:c.544T>C	ENSP00000481963.1:p.Phe182Leu
NM_001005609.1:c.934T>C	NP_001005609.1:p.Phe312Leu
NM_001005612.2:c.925T>C	NP_001005612.2:p.Phe309Leu
NM_001399.4:c.940T>C	NP_001390.1:p.Phe314Leu
XM_006724630.2:c.931T>C	XP_006724693.1:p.Phe311Leu
XM_017029336.1:c.898T>C	XP_016884825.1:p.Phe300Leu
NM_001399.5:c.940T>C MANE Select	NP_001390.1:p.Phe314Leu
NM_001005609.2:c.934T>C	NP_001005609.1:p.Phe312Leu
NM_001005612.3:c.925T>C	NP_001005612.2:p.Phe309Leu