Canonical Allele Identifier: CA413449312

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255222C>A (hg19) ; chrX:g.70035372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035372C>A , CM000685.2:g.70035372C>A	GRCh38
NC_000023.10:g.69255222C>A , CM000685.1:g.69255222C>A	GRCh37
NC_000023.9:g.69171947C>A	NCBI36
NG_009809.1:g.424312C>A
NG_009809.2:g.424306C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.939C>A MANE Select	ENSP00000363680.4:p.Asn313Lys
ENST00000374552.8:c.939C>A	ENSP00000363680.4:p.Asn313Lys
ENST00000374553.6:c.933C>A	ENSP00000363681.2:p.Asn311Lys
ENST00000524573.5:c.924C>A	ENSP00000432585.1:p.Asn308Lys
ENST00000616899.1:c.543C>A	ENSP00000481963.1:p.Asn181Lys
NM_001005609.1:c.933C>A	NP_001005609.1:p.Asn311Lys
NM_001005612.2:c.924C>A	NP_001005612.2:p.Asn308Lys
NM_001399.4:c.939C>A	NP_001390.1:p.Asn313Lys
XM_006724630.2:c.930C>A	XP_006724693.1:p.Asn310Lys
XM_017029336.1:c.897C>A	XP_016884825.1:p.Asn299Lys
NM_001399.5:c.939C>A MANE Select	NP_001390.1:p.Asn313Lys
NM_001005609.2:c.933C>A	NP_001005609.1:p.Asn311Lys
NM_001005612.3:c.924C>A	NP_001005612.2:p.Asn308Lys