Canonical Allele Identifier: CA330947486
Gene: EDA HGNC NCBI

Linked Data

dbSNP Id: rs959512937
gnomAD v2: X-69177029-G-A
gnomAD v4: X-69957179-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957179G>A , CM000685.2:g.69957179G>A GRCh38
NC_000023.10:g.69177029G>A , CM000685.1:g.69177029G>A GRCh37
NC_000023.9:g.69093754G>A NCBI36
NG_009809.1:g.346119G>A
NG_009809.2:g.346113G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.502+47G>A MANE Select ENSP00000363680.4:n.502+47G>A
ENST00000374548.5:n.791G>A
ENST00000374552.8:c.502+47G>A ENSP00000363680.4:n.502+47G>A
ENST00000374553.6:c.502+47G>A ENSP00000363681.2:n.502+47G>A
ENST00000502251.5:n.842G>A
ENST00000503592.5:c.106+47G>A ENSP00000423037.1:n.106+47G>A
ENST00000524573.5:c.502+47G>A ENSP00000432585.1:n.502+47G>A
ENST00000533317.5:n.1164G>A
ENST00000616899.1:c.106+47G>A ENSP00000481963.1:n.106+47G>A
NM_001005609.1:c.502+47G>A NP_001005609.1:n.502+47G>A
NM_001005612.2:c.502+47G>A NP_001005612.2:n.502+47G>A
NM_001399.4:c.502+47G>A NP_001390.1:n.502+47G>A
XM_006724630.2:c.502+47G>A XP_006724693.1:n.502+47G>A
XM_011530885.1:c.502+47G>A XP_011529187.1:n.502+47G>A
XM_011530885.2:c.502+47G>A XP_011529187.1:n.502+47G>A
XM_017029336.1:c.502+47G>A XP_016884825.1:n.502+47G>A
NM_001399.5:c.502+47G>A MANE Select NP_001390.1:n.502+47G>A
NM_001005609.2:c.502+47G>A NP_001005609.1:n.502+47G>A
NM_001005612.3:c.502+47G>A NP_001005612.2:n.502+47G>A