Canonical Allele Identifier: CA413448988

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253356A>T (hg19) ; chrX:g.70033506A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033506A>T , CM000685.2:g.70033506A>T	GRCh38
NC_000023.10:g.69253356A>T , CM000685.1:g.69253356A>T	GRCh37
NC_000023.9:g.69170081A>T	NCBI36
NG_009809.1:g.422446A>T
NG_009809.2:g.422440A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.902A>T MANE Select	ENSP00000363680.4:p.Tyr301Phe
ENST00000374552.8:c.902A>T	ENSP00000363680.4:p.Tyr301Phe
ENST00000374553.6:c.902A>T	ENSP00000363681.2:p.Tyr301Phe
ENST00000524573.5:c.893A>T	ENSP00000432585.1:p.Tyr298Phe
ENST00000616899.1:c.506A>T	ENSP00000481963.1:p.Tyr169Phe
NM_001005609.1:c.902A>T	NP_001005609.1:p.Tyr301Phe
NM_001005612.2:c.893A>T	NP_001005612.2:p.Tyr298Phe
NM_001399.4:c.902A>T	NP_001390.1:p.Tyr301Phe
XM_006724630.2:c.893A>T	XP_006724693.1:p.Tyr298Phe
XM_011530885.1:c.902A>T	XP_011529187.1:p.Tyr301Phe
XM_011530885.2:c.902A>T	XP_011529187.1:p.Tyr301Phe
XM_017029336.1:c.882+20A>T	XP_016884825.1:n.882+20A>T
NM_001399.5:c.902A>T MANE Select	NP_001390.1:p.Tyr301Phe
NM_001005609.2:c.902A>T	NP_001005609.1:p.Tyr301Phe
NM_001005612.3:c.893A>T	NP_001005612.2:p.Tyr298Phe