Canonical Allele Identifier: CA413448825
Gene: EDA HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.70033430C>G
GRCh37 chrX:g.69253280C>G
Revel Score:
ENST00000374552 (MANE Select) 0.737
ENST00000374553 0.737
ENST00000524573 0.737
ClinVar RCV:
RCV003111851
ClinVar Variation:
2417023
dbSNP:
387907197
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033430C>G , CM000685.2:g.70033430C>G GRCh38
NC_000023.10:g.69253280C>G , CM000685.1:g.69253280C>G GRCh37
NC_000023.9:g.69170005C>G NCBI36
NG_009809.1:g.422370C>G
NG_009809.2:g.422364C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.826C>G MANE Select ENSP00000363680.4:p.Arg276Gly
ENST00000374552.8:c.826C>G ENSP00000363680.4:p.Arg276Gly
ENST00000374553.6:c.826C>G ENSP00000363681.2:p.Arg276Gly
ENST00000524573.5:c.817C>G ENSP00000432585.1:p.Arg273Gly
ENST00000616899.1:c.430C>G ENSP00000481963.1:p.Arg144Gly
NM_001005609.1:c.826C>G NP_001005609.1:p.Arg276Gly
NM_001005612.2:c.817C>G NP_001005612.2:p.Arg273Gly
NM_001399.4:c.826C>G NP_001390.1:p.Arg276Gly
XM_006724630.2:c.817C>G XP_006724693.1:p.Arg273Gly
XM_011530885.1:c.826C>G XP_011529187.1:p.Arg276Gly
XM_011530885.2:c.826C>G XP_011529187.1:p.Arg276Gly
XM_017029336.1:c.826C>G XP_016884825.1:p.Arg276Gly
NM_001399.5:c.826C>G MANE Select NP_001390.1:p.Arg276Gly
NM_001005609.2:c.826C>G NP_001005609.1:p.Arg276Gly
NM_001005612.3:c.817C>G NP_001005612.2:p.Arg273Gly
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