Canonical Allele Identifier: CA2693978674
Gene: EDA HGNC NCBI

Linked Data

dbSNP Id: rs2147509198
gnomAD v4: X-70027705-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027705C>T , CM000685.2:g.70027705C>T GRCh38
NC_000023.10:g.69247555C>T , CM000685.1:g.69247555C>T GRCh37
NC_000023.9:g.69164280C>T NCBI36
NG_009809.1:g.416645C>T
NG_009809.2:g.416639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.527-152C>T MANE Select ENSP00000363680.4:n.527-152C>T
ENST00000374552.8:c.527-152C>T ENSP00000363680.4:n.527-152C>T
ENST00000374553.6:c.527-152C>T ENSP00000363681.2:n.527-152C>T
ENST00000503592.5:c.131-152C>T ENSP00000423037.1:n.131-152C>T
ENST00000524573.5:c.527-152C>T ENSP00000432585.1:n.527-152C>T
ENST00000616899.1:c.131-152C>T ENSP00000481963.1:n.131-152C>T
NM_001005609.1:c.527-152C>T NP_001005609.1:n.527-152C>T
NM_001005612.2:c.527-152C>T NP_001005612.2:n.527-152C>T
NM_001399.4:c.527-152C>T NP_001390.1:n.527-152C>T
XM_006724630.2:c.527-152C>T XP_006724693.1:n.527-152C>T
XM_011530885.1:c.527-152C>T XP_011529187.1:n.527-152C>T
XM_011530885.2:c.527-152C>T XP_011529187.1:n.527-152C>T
XM_017029336.1:c.527-152C>T XP_016884825.1:n.527-152C>T
NM_001399.5:c.527-152C>T MANE Select NP_001390.1:n.527-152C>T
NM_001005609.2:c.527-152C>T NP_001005609.1:n.527-152C>T
NM_001005612.3:c.527-152C>T NP_001005612.2:n.527-152C>T