Canonical Allele Identifier: CA16043329
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 372608
ClinVar RCV Id: RCV000413515
dbSNP Id: rs1057517882
MyVariant Identifiers: chrX:g.69250346G>C (hg19) chrX:g.70030496G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70030496G>C , CM000685.2:g.70030496G>C GRCh38
NC_000023.10:g.69250346G>C , CM000685.1:g.69250346G>C GRCh37
NC_000023.9:g.69167071G>C NCBI36
NG_009809.1:g.419436G>C
NG_009809.2:g.419430G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.769G>C MANE Select ENSP00000363680.4:p.Gly257Arg
ENST00000374552.8:c.769G>C ENSP00000363680.4:p.Gly257Arg
ENST00000374553.6:c.769G>C ENSP00000363681.2:p.Gly257Arg
ENST00000503592.5:c.373G>C ENSP00000423037.1:p.Gly125Arg
ENST00000524573.5:c.769G>C ENSP00000432585.1:p.Gly257Arg
ENST00000616899.1:c.373G>C ENSP00000481963.1:p.Gly125Arg
NM_001005609.1:c.769G>C NP_001005609.1:p.Gly257Arg
NM_001005612.2:c.769G>C NP_001005612.2:p.Gly257Arg
NM_001399.4:c.769G>C NP_001390.1:p.Gly257Arg
XM_006724630.2:c.769G>C XP_006724693.1:p.Gly257Arg
XM_011530885.1:c.769G>C XP_011529187.1:p.Gly257Arg
XM_011530885.2:c.769G>C XP_011529187.1:p.Gly257Arg
XM_017029336.1:c.769G>C XP_016884825.1:p.Gly257Arg
NM_001399.5:c.769G>C MANE Select NP_001390.1:p.Gly257Arg
NM_001005609.2:c.769G>C NP_001005609.1:p.Gly257Arg
NM_001005612.3:c.769G>C NP_001005612.2:p.Gly257Arg
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