Canonical Allele Identifier: CA517014508
Gene: EDA HGNC NCBI

Linked Data

gnomAD v4: X-69957125-A-C
MyVariant Identifiers: chrX:g.69176975A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957125A>C , CM000685.2:g.69957125A>C GRCh38
NC_000023.10:g.69176975A>C , CM000685.1:g.69176975A>C GRCh37
NC_000023.9:g.69093700A>C NCBI36
NG_009809.1:g.346065A>C
NG_009809.2:g.346059A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.495A>C MANE Select ENSP00000363680.4:p.Gly165=
ENST00000374548.5:n.737A>C
ENST00000374552.8:c.495A>C ENSP00000363680.4:p.Gly165=
ENST00000374553.6:c.495A>C ENSP00000363681.2:p.Gly165=
ENST00000502251.5:n.788A>C
ENST00000503592.5:c.99A>C ENSP00000423037.1:p.Gly33=
ENST00000524573.5:c.495A>C ENSP00000432585.1:p.Gly165=
ENST00000533317.5:n.1110A>C
ENST00000616899.1:c.99A>C ENSP00000481963.1:p.Gly33=
NM_001005609.1:c.495A>C NP_001005609.1:p.Gly165=
NM_001005612.2:c.495A>C NP_001005612.2:p.Gly165=
NM_001399.4:c.495A>C NP_001390.1:p.Gly165=
XM_006724630.2:c.495A>C XP_006724693.1:p.Gly165=
XM_011530885.1:c.495A>C XP_011529187.1:p.Gly165=
XM_011530885.2:c.495A>C XP_011529187.1:p.Gly165=
XM_017029336.1:c.495A>C XP_016884825.1:p.Gly165=
NM_001399.5:c.495A>C MANE Select NP_001390.1:p.Gly165=
NM_001005609.2:c.495A>C NP_001005609.1:p.Gly165=
NM_001005612.3:c.495A>C NP_001005612.2:p.Gly165=