Canonical Allele Identifier: CA413447851

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69176895T>C (hg19) ; chrX:g.69957045T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957045T>C , CM000685.2:g.69957045T>C	GRCh38
NC_000023.10:g.69176895T>C , CM000685.1:g.69176895T>C	GRCh37
NC_000023.9:g.69093620T>C	NCBI36
NG_009809.1:g.345985T>C
NG_009809.2:g.345979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.415T>C MANE Select	ENSP00000363680.4:p.Phe139Leu
ENST00000374548.5:n.657T>C
ENST00000374552.8:c.415T>C	ENSP00000363680.4:p.Phe139Leu
ENST00000374553.6:c.415T>C	ENSP00000363681.2:p.Phe139Leu
ENST00000502251.5:n.708T>C
ENST00000503592.5:c.19T>C	ENSP00000423037.1:p.Phe7Leu
ENST00000524573.5:c.415T>C	ENSP00000432585.1:p.Phe139Leu
ENST00000533317.5:n.1030T>C
ENST00000616899.1:c.19T>C	ENSP00000481963.1:p.Phe7Leu
NM_001005609.1:c.415T>C	NP_001005609.1:p.Phe139Leu
NM_001005612.2:c.415T>C	NP_001005612.2:p.Phe139Leu
NM_001399.4:c.415T>C	NP_001390.1:p.Phe139Leu
XM_006724630.2:c.415T>C	XP_006724693.1:p.Phe139Leu
XM_011530885.1:c.415T>C	XP_011529187.1:p.Phe139Leu
XM_011530885.2:c.415T>C	XP_011529187.1:p.Phe139Leu
XM_017029336.1:c.415T>C	XP_016884825.1:p.Phe139Leu
NM_001399.5:c.415T>C MANE Select	NP_001390.1:p.Phe139Leu
NM_001005609.2:c.415T>C	NP_001005609.1:p.Phe139Leu
NM_001005612.3:c.415T>C	NP_001005612.2:p.Phe139Leu