Canonical Allele Identifier: CA16608975
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 379815
ClinVar RCV Id: RCV000439320 RCV000526582
dbSNP Id: rs1057520742
MyVariant Identifiers: chrX:g.69247797C>T (hg19) chrX:g.70027947C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027947C>T , CM000685.2:g.70027947C>T GRCh38
NC_000023.10:g.69247797C>T , CM000685.1:g.69247797C>T GRCh37
NC_000023.9:g.69164522C>T NCBI36
NG_009809.1:g.416887C>T
NG_009809.2:g.416881C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.617C>T MANE Select ENSP00000363680.4:p.Pro206Leu
ENST00000374552.8:c.617C>T ENSP00000363680.4:p.Pro206Leu
ENST00000374553.6:c.617C>T ENSP00000363681.2:p.Pro206Leu
ENST00000503592.5:c.221C>T ENSP00000423037.1:p.Pro74Leu
ENST00000524573.5:c.617C>T ENSP00000432585.1:p.Pro206Leu
ENST00000616899.1:c.221C>T ENSP00000481963.1:p.Pro74Leu
NM_001005609.1:c.617C>T NP_001005609.1:p.Pro206Leu
NM_001005612.2:c.617C>T NP_001005612.2:p.Pro206Leu
NM_001399.4:c.617C>T NP_001390.1:p.Pro206Leu
XM_006724630.2:c.617C>T XP_006724693.1:p.Pro206Leu
XM_011530885.1:c.617C>T XP_011529187.1:p.Pro206Leu
XM_011530885.2:c.617C>T XP_011529187.1:p.Pro206Leu
XM_017029336.1:c.617C>T XP_016884825.1:p.Pro206Leu
NM_001399.5:c.617C>T MANE Select NP_001390.1:p.Pro206Leu
NM_001005609.2:c.617C>T NP_001005609.1:p.Pro206Leu
NM_001005612.3:c.617C>T NP_001005612.2:p.Pro206Leu
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