Canonical Allele Identifier: CA413449309

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255221A>T (hg19) ; chrX:g.70035371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035371A>T , CM000685.2:g.70035371A>T	GRCh38
NC_000023.10:g.69255221A>T , CM000685.1:g.69255221A>T	GRCh37
NC_000023.9:g.69171946A>T	NCBI36
NG_009809.1:g.424311A>T
NG_009809.2:g.424305A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.938A>T MANE Select	ENSP00000363680.4:p.Asn313Ile
ENST00000374552.8:c.938A>T	ENSP00000363680.4:p.Asn313Ile
ENST00000374553.6:c.932A>T	ENSP00000363681.2:p.Asn311Ile
ENST00000524573.5:c.923A>T	ENSP00000432585.1:p.Asn308Ile
ENST00000616899.1:c.542A>T	ENSP00000481963.1:p.Asn181Ile
NM_001005609.1:c.932A>T	NP_001005609.1:p.Asn311Ile
NM_001005612.2:c.923A>T	NP_001005612.2:p.Asn308Ile
NM_001399.4:c.938A>T	NP_001390.1:p.Asn313Ile
XM_006724630.2:c.929A>T	XP_006724693.1:p.Asn310Ile
XM_017029336.1:c.896A>T	XP_016884825.1:p.Asn299Ile
NM_001399.5:c.938A>T MANE Select	NP_001390.1:p.Asn313Ile
NM_001005609.2:c.932A>T	NP_001005609.1:p.Asn311Ile
NM_001005612.3:c.923A>T	NP_001005612.2:p.Asn308Ile