Canonical Allele Identifier: CA413449298

Gene: EDA

Linked Data

• gnomAD v4: X-70035370-A-G
• MyVariant Identifiers: chrX:g.69255220A>G (hg19) ; chrX:g.70035370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035370A>G , CM000685.2:g.70035370A>G	GRCh38
NC_000023.10:g.69255220A>G , CM000685.1:g.69255220A>G	GRCh37
NC_000023.9:g.69171945A>G	NCBI36
NG_009809.1:g.424310A>G
NG_009809.2:g.424304A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.937A>G MANE Select	ENSP00000363680.4:p.Asn313Asp
ENST00000374552.8:c.937A>G	ENSP00000363680.4:p.Asn313Asp
ENST00000374553.6:c.931A>G	ENSP00000363681.2:p.Asn311Asp
ENST00000524573.5:c.922A>G	ENSP00000432585.1:p.Asn308Asp
ENST00000616899.1:c.541A>G	ENSP00000481963.1:p.Asn181Asp
NM_001005609.1:c.931A>G	NP_001005609.1:p.Asn311Asp
NM_001005612.2:c.922A>G	NP_001005612.2:p.Asn308Asp
NM_001399.4:c.937A>G	NP_001390.1:p.Asn313Asp
XM_006724630.2:c.928A>G	XP_006724693.1:p.Asn310Asp
XM_017029336.1:c.895A>G	XP_016884825.1:p.Asn299Asp
NM_001399.5:c.937A>G MANE Select	NP_001390.1:p.Asn313Asp
NM_001005609.2:c.931A>G	NP_001005609.1:p.Asn311Asp
NM_001005612.3:c.922A>G	NP_001005612.2:p.Asn308Asp