Canonical Allele Identifier: CA16621475
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 418172
ClinVar RCV Id: RCV000483933
dbSNP Id: rs1064793106
MyVariant Identifiers: chrX:g.69253377A>G (hg19) chrX:g.70033527A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033527A>G , CM000685.2:g.70033527A>G GRCh38
NC_000023.10:g.69253377A>G , CM000685.1:g.69253377A>G GRCh37
NC_000023.9:g.69170102A>G NCBI36
NG_009809.1:g.422467A>G
NG_009809.2:g.422461A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.923A>G MANE Select ENSP00000363680.4:p.Glu308Gly
ENST00000374552.8:c.923A>G ENSP00000363680.4:p.Glu308Gly
ENST00000374553.6:c.918+5A>G ENSP00000363681.2:n.918+5A>G
ENST00000524573.5:c.909+5A>G ENSP00000432585.1:n.909+5A>G
ENST00000616899.1:c.527A>G ENSP00000481963.1:p.Glu176Gly
NM_001005609.1:c.918+5A>G NP_001005609.1:n.918+5A>G
NM_001005612.2:c.909+5A>G NP_001005612.2:n.909+5A>G
NM_001399.4:c.923A>G NP_001390.1:p.Glu308Gly
XM_006724630.2:c.914A>G XP_006724693.1:p.Glu305Gly
XM_011530885.1:c.918+5A>G XP_011529187.1:n.918+5A>G
XM_011530885.2:c.918+5A>G XP_011529187.1:n.918+5A>G
XM_017029336.1:c.882+41A>G XP_016884825.1:n.882+41A>G
NM_001399.5:c.923A>G MANE Select NP_001390.1:p.Glu308Gly
NM_001005609.2:c.918+5A>G NP_001005609.1:n.918+5A>G
NM_001005612.3:c.909+5A>G NP_001005612.2:n.909+5A>G
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