Canonical Allele Identifier: CA16043303
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 373096
ClinVar RCV Id: RCV000414008
dbSNP Id: rs1057518211
MyVariant Identifiers: chrX:g.69255215A>C (hg19) chrX:g.70035365A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70035365A>C , CM000685.2:g.70035365A>C GRCh38
NC_000023.10:g.69255215A>C , CM000685.1:g.69255215A>C GRCh37
NC_000023.9:g.69171940A>C NCBI36
NG_009809.1:g.424305A>C
NG_009809.2:g.424299A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.932A>C MANE Select ENSP00000363680.4:p.Tyr311Ser
ENST00000374552.8:c.932A>C ENSP00000363680.4:p.Tyr311Ser
ENST00000374553.6:c.926A>C ENSP00000363681.2:p.Tyr309Ser
ENST00000524573.5:c.917A>C ENSP00000432585.1:p.Tyr306Ser
ENST00000616899.1:c.536A>C ENSP00000481963.1:p.Tyr179Ser
NM_001005609.1:c.926A>C NP_001005609.1:p.Tyr309Ser
NM_001005612.2:c.917A>C NP_001005612.2:p.Tyr306Ser
NM_001399.4:c.932A>C NP_001390.1:p.Tyr311Ser
XM_006724630.2:c.923A>C XP_006724693.1:p.Tyr308Ser
XM_017029336.1:c.890A>C XP_016884825.1:p.Tyr297Ser
NM_001399.5:c.932A>C MANE Select NP_001390.1:p.Tyr311Ser
NM_001005609.2:c.926A>C NP_001005609.1:p.Tyr309Ser
NM_001005612.3:c.917A>C NP_001005612.2:p.Tyr306Ser
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