Canonical Allele Identifier: CA413449005

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253360C>A (hg19) ; chrX:g.70033510C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033510C>A , CM000685.2:g.70033510C>A	GRCh38
NC_000023.10:g.69253360C>A , CM000685.1:g.69253360C>A	GRCh37
NC_000023.9:g.69170085C>A	NCBI36
NG_009809.1:g.422450C>A
NG_009809.2:g.422444C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.906C>A MANE Select	ENSP00000363680.4:p.Phe302Leu
ENST00000374552.8:c.906C>A	ENSP00000363680.4:p.Phe302Leu
ENST00000374553.6:c.906C>A	ENSP00000363681.2:p.Phe302Leu
ENST00000524573.5:c.897C>A	ENSP00000432585.1:p.Phe299Leu
ENST00000616899.1:c.510C>A	ENSP00000481963.1:p.Phe170Leu
NM_001005609.1:c.906C>A	NP_001005609.1:p.Phe302Leu
NM_001005612.2:c.897C>A	NP_001005612.2:p.Phe299Leu
NM_001399.4:c.906C>A	NP_001390.1:p.Phe302Leu
XM_006724630.2:c.897C>A	XP_006724693.1:p.Phe299Leu
XM_011530885.1:c.906C>A	XP_011529187.1:p.Phe302Leu
XM_011530885.2:c.906C>A	XP_011529187.1:p.Phe302Leu
XM_017029336.1:c.882+24C>A	XP_016884825.1:n.882+24C>A
NM_001399.5:c.906C>A MANE Select	NP_001390.1:p.Phe302Leu
NM_001005609.2:c.906C>A	NP_001005609.1:p.Phe302Leu
NM_001005612.3:c.897C>A	NP_001005612.2:p.Phe299Leu