Canonical Allele Identifier: CA330952204
Gene: EDA HGNC NCBI

Linked Data

dbSNP Id: rs964746288
gnomAD v4: X-70027723-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027723T>C , CM000685.2:g.70027723T>C GRCh38
NC_000023.10:g.69247573T>C , CM000685.1:g.69247573T>C GRCh37
NC_000023.9:g.69164298T>C NCBI36
NG_009809.1:g.416663T>C
NG_009809.2:g.416657T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.527-134T>C MANE Select ENSP00000363680.4:n.527-134T>C
ENST00000374552.8:c.527-134T>C ENSP00000363680.4:n.527-134T>C
ENST00000374553.6:c.527-134T>C ENSP00000363681.2:n.527-134T>C
ENST00000503592.5:c.131-134T>C ENSP00000423037.1:n.131-134T>C
ENST00000524573.5:c.527-134T>C ENSP00000432585.1:n.527-134T>C
ENST00000616899.1:c.131-134T>C ENSP00000481963.1:n.131-134T>C
NM_001005609.1:c.527-134T>C NP_001005609.1:n.527-134T>C
NM_001005612.2:c.527-134T>C NP_001005612.2:n.527-134T>C
NM_001399.4:c.527-134T>C NP_001390.1:n.527-134T>C
XM_006724630.2:c.527-134T>C XP_006724693.1:n.527-134T>C
XM_011530885.1:c.527-134T>C XP_011529187.1:n.527-134T>C
XM_011530885.2:c.527-134T>C XP_011529187.1:n.527-134T>C
XM_017029336.1:c.527-134T>C XP_016884825.1:n.527-134T>C
NM_001399.5:c.527-134T>C MANE Select NP_001390.1:n.527-134T>C
NM_001005609.2:c.527-134T>C NP_001005609.1:n.527-134T>C
NM_001005612.3:c.527-134T>C NP_001005612.2:n.527-134T>C