Canonical Allele Identifier: CA413449296

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255220A>C (hg19) ; chrX:g.70035370A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.937A>C MANE Select	ENSP00000363680.4:p.Asn313His
ENST00000374552.8:c.937A>C	ENSP00000363680.4:p.Asn313His
ENST00000374553.6:c.931A>C	ENSP00000363681.2:p.Asn311His
ENST00000524573.5:c.922A>C	ENSP00000432585.1:p.Asn308His
ENST00000616899.1:c.541A>C	ENSP00000481963.1:p.Asn181His
NM_001005609.1:c.931A>C	NP_001005609.1:p.Asn311His
NM_001005612.2:c.922A>C	NP_001005612.2:p.Asn308His
NM_001399.4:c.937A>C	NP_001390.1:p.Asn313His
XM_006724630.2:c.928A>C	XP_006724693.1:p.Asn310His
XM_017029336.1:c.895A>C	XP_016884825.1:p.Asn299His
NM_001399.5:c.937A>C MANE Select	NP_001390.1:p.Asn313His
NM_001005609.2:c.931A>C	NP_001005609.1:p.Asn311His
NM_001005612.3:c.922A>C	NP_001005612.2:p.Asn308His