Canonical Allele Identifier: CA517014453
Gene: EDA HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.69176963A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957113A>G , CM000685.2:g.69957113A>G GRCh38
NC_000023.10:g.69176963A>G , CM000685.1:g.69176963A>G GRCh37
NC_000023.9:g.69093688A>G NCBI36
NG_009809.1:g.346053A>G
NG_009809.2:g.346047A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.483A>G MANE Select ENSP00000363680.4:p.Lys161=
ENST00000374548.5:n.725A>G
ENST00000374552.8:c.483A>G ENSP00000363680.4:p.Lys161=
ENST00000374553.6:c.483A>G ENSP00000363681.2:p.Lys161=
ENST00000502251.5:n.776A>G
ENST00000503592.5:c.87A>G ENSP00000423037.1:p.Lys29=
ENST00000524573.5:c.483A>G ENSP00000432585.1:p.Lys161=
ENST00000533317.5:n.1098A>G
ENST00000616899.1:c.87A>G ENSP00000481963.1:p.Lys29=
NM_001005609.1:c.483A>G NP_001005609.1:p.Lys161=
NM_001005612.2:c.483A>G NP_001005612.2:p.Lys161=
NM_001399.4:c.483A>G NP_001390.1:p.Lys161=
XM_006724630.2:c.483A>G XP_006724693.1:p.Lys161=
XM_011530885.1:c.483A>G XP_011529187.1:p.Lys161=
XM_011530885.2:c.483A>G XP_011529187.1:p.Lys161=
XM_017029336.1:c.483A>G XP_016884825.1:p.Lys161=
NM_001399.5:c.483A>G MANE Select NP_001390.1:p.Lys161=
NM_001005609.2:c.483A>G NP_001005609.1:p.Lys161=
NM_001005612.3:c.483A>G NP_001005612.2:p.Lys161=