Canonical Allele Identifier: CA2693980637
Gene: EDA HGNC NCBI

Linked Data

gnomAD v4: X-70035273-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70035273A>C , CM000685.2:g.70035273A>C GRCh38
NC_000023.10:g.69255123A>C , CM000685.1:g.69255123A>C GRCh37
NC_000023.9:g.69171848A>C NCBI36
NG_009809.1:g.424213A>C
NG_009809.2:g.424207A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.925-85A>C MANE Select ENSP00000363680.4:n.925-85A>C
ENST00000374552.8:c.925-85A>C ENSP00000363680.4:n.925-85A>C
ENST00000374553.6:c.919-85A>C ENSP00000363681.2:n.919-85A>C
ENST00000524573.5:c.910-85A>C ENSP00000432585.1:n.910-85A>C
ENST00000616899.1:c.529-85A>C ENSP00000481963.1:n.529-85A>C
NM_001005609.1:c.919-85A>C NP_001005609.1:n.919-85A>C
NM_001005612.2:c.910-85A>C NP_001005612.2:n.910-85A>C
NM_001399.4:c.925-85A>C NP_001390.1:n.925-85A>C
XM_006724630.2:c.916-85A>C XP_006724693.1:n.916-85A>C
XM_017029336.1:c.883-85A>C XP_016884825.1:n.883-85A>C
NM_001399.5:c.925-85A>C MANE Select NP_001390.1:n.925-85A>C
NM_001005609.2:c.919-85A>C NP_001005609.1:n.919-85A>C
NM_001005612.3:c.910-85A>C NP_001005612.2:n.910-85A>C