Canonical Allele Identifier: CA642473157
Gene: EDA HGNC NCBI

Linked Data

dbSNP Id: rs1206238601
gnomAD v2: X-69247684-T-A
gnomAD v4: X-70027834-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027834T>A , CM000685.2:g.70027834T>A GRCh38
NC_000023.10:g.69247684T>A , CM000685.1:g.69247684T>A GRCh37
NC_000023.9:g.69164409T>A NCBI36
NG_009809.1:g.416774T>A
NG_009809.2:g.416768T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.527-23T>A MANE Select ENSP00000363680.4:n.527-23T>A
ENST00000374552.8:c.527-23T>A ENSP00000363680.4:n.527-23T>A
ENST00000374553.6:c.527-23T>A ENSP00000363681.2:n.527-23T>A
ENST00000503592.5:c.131-23T>A ENSP00000423037.1:n.131-23T>A
ENST00000524573.5:c.527-23T>A ENSP00000432585.1:n.527-23T>A
ENST00000616899.1:c.131-23T>A ENSP00000481963.1:n.131-23T>A
NM_001005609.1:c.527-23T>A NP_001005609.1:n.527-23T>A
NM_001005612.2:c.527-23T>A NP_001005612.2:n.527-23T>A
NM_001399.4:c.527-23T>A NP_001390.1:n.527-23T>A
XM_006724630.2:c.527-23T>A XP_006724693.1:n.527-23T>A
XM_011530885.1:c.527-23T>A XP_011529187.1:n.527-23T>A
XM_011530885.2:c.527-23T>A XP_011529187.1:n.527-23T>A
XM_017029336.1:c.527-23T>A XP_016884825.1:n.527-23T>A
NM_001399.5:c.527-23T>A MANE Select NP_001390.1:n.527-23T>A
NM_001005609.2:c.527-23T>A NP_001005609.1:n.527-23T>A
NM_001005612.3:c.527-23T>A NP_001005612.2:n.527-23T>A