Canonical Allele Identifier: CA413449036

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253367A>T (hg19) ; chrX:g.70033517A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033517A>T , CM000685.2:g.70033517A>T	GRCh38
NC_000023.10:g.69253367A>T , CM000685.1:g.69253367A>T	GRCh37
NC_000023.9:g.69170092A>T	NCBI36
NG_009809.1:g.422457A>T
NG_009809.2:g.422451A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.913A>T MANE Select	ENSP00000363680.4:p.Ser305Cys
ENST00000374552.8:c.913A>T	ENSP00000363680.4:p.Ser305Cys
ENST00000374553.6:c.913A>T	ENSP00000363681.2:p.Ser305Cys
ENST00000524573.5:c.904A>T	ENSP00000432585.1:p.Ser302Cys
ENST00000616899.1:c.517A>T	ENSP00000481963.1:p.Ser173Cys
NM_001005609.1:c.913A>T	NP_001005609.1:p.Ser305Cys
NM_001005612.2:c.904A>T	NP_001005612.2:p.Ser302Cys
NM_001399.4:c.913A>T	NP_001390.1:p.Ser305Cys
XM_006724630.2:c.904A>T	XP_006724693.1:p.Ser302Cys
XM_011530885.1:c.913A>T	XP_011529187.1:p.Ser305Cys
XM_011530885.2:c.913A>T	XP_011529187.1:p.Ser305Cys
XM_017029336.1:c.882+31A>T	XP_016884825.1:n.882+31A>T
NM_001399.5:c.913A>T MANE Select	NP_001390.1:p.Ser305Cys
NM_001005609.2:c.913A>T	NP_001005609.1:p.Ser305Cys
NM_001005612.3:c.904A>T	NP_001005612.2:p.Ser302Cys