Canonical Allele Identifier: CA517012674
Gene: EDA HGNC NCBI

Linked Data

gnomAD v4: X-70027897-A-G
MyVariant Identifiers: chrX:g.69247747A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027897A>G , CM000685.2:g.70027897A>G GRCh38
NC_000023.10:g.69247747A>G , CM000685.1:g.69247747A>G GRCh37
NC_000023.9:g.69164472A>G NCBI36
NG_009809.1:g.416837A>G
NG_009809.2:g.416831A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.567A>G MANE Select ENSP00000363680.4:p.Gly189=
ENST00000374552.8:c.567A>G ENSP00000363680.4:p.Gly189=
ENST00000374553.6:c.567A>G ENSP00000363681.2:p.Gly189=
ENST00000503592.5:c.171A>G ENSP00000423037.1:p.Gly57=
ENST00000524573.5:c.567A>G ENSP00000432585.1:p.Gly189=
ENST00000616899.1:c.171A>G ENSP00000481963.1:p.Gly57=
NM_001005609.1:c.567A>G NP_001005609.1:p.Gly189=
NM_001005612.2:c.567A>G NP_001005612.2:p.Gly189=
NM_001399.4:c.567A>G NP_001390.1:p.Gly189=
XM_006724630.2:c.567A>G XP_006724693.1:p.Gly189=
XM_011530885.1:c.567A>G XP_011529187.1:p.Gly189=
XM_011530885.2:c.567A>G XP_011529187.1:p.Gly189=
XM_017029336.1:c.567A>G XP_016884825.1:p.Gly189=
NM_001399.5:c.567A>G MANE Select NP_001390.1:p.Gly189=
NM_001005609.2:c.567A>G NP_001005609.1:p.Gly189=
NM_001005612.3:c.567A>G NP_001005612.2:p.Gly189=