Canonical Allele Identifier: CA413448380
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 458660
ClinVar RCV Id: RCV000536911
dbSNP Id: rs1556098733
gnomAD v4: X-70027958-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027958G>T , CM000685.2:g.70027958G>T GRCh38
NC_000023.10:g.69247808G>T , CM000685.1:g.69247808G>T GRCh37
NC_000023.9:g.69164533G>T NCBI36
NG_009809.1:g.416898G>T
NG_009809.2:g.416892G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.628G>T MANE Select ENSP00000363680.4:p.Gly210Ter
ENST00000374552.8:c.628G>T ENSP00000363680.4:p.Gly210Ter
ENST00000374553.6:c.628G>T ENSP00000363681.2:p.Gly210Ter
ENST00000503592.5:c.232G>T ENSP00000423037.1:p.Gly78Ter
ENST00000524573.5:c.628G>T ENSP00000432585.1:p.Gly210Ter
ENST00000616899.1:c.232G>T ENSP00000481963.1:p.Gly78Ter
NM_001005609.1:c.628G>T NP_001005609.1:p.Gly210Ter
NM_001005612.2:c.628G>T NP_001005612.2:p.Gly210Ter
NM_001399.4:c.628G>T NP_001390.1:p.Gly210Ter
XM_006724630.2:c.628G>T XP_006724693.1:p.Gly210Ter
XM_011530885.1:c.628G>T XP_011529187.1:p.Gly210Ter
XM_011530885.2:c.628G>T XP_011529187.1:p.Gly210Ter
XM_017029336.1:c.628G>T XP_016884825.1:p.Gly210Ter
NM_001399.5:c.628G>T MANE Select NP_001390.1:p.Gly210Ter
NM_001005609.2:c.628G>T NP_001005609.1:p.Gly210Ter
NM_001005612.3:c.628G>T NP_001005612.2:p.Gly210Ter