Canonical Allele Identifier: CA181048
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 11038
dbSNP Id: rs132630315

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027956C>T , CM000685.2:g.70027956C>T GRCh38
NC_000023.10:g.69247806C>T , CM000685.1:g.69247806C>T GRCh37
NC_000023.9:g.69164531C>T NCBI36
NG_009809.1:g.416896C>T
NG_009809.2:g.416890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.626C>T MANE Select ENSP00000363680.4:p.Pro209Leu
ENST00000374552.8:c.626C>T ENSP00000363680.4:p.Pro209Leu
ENST00000374553.6:c.626C>T ENSP00000363681.2:p.Pro209Leu
ENST00000503592.5:c.230C>T ENSP00000423037.1:p.Pro77Leu
ENST00000524573.5:c.626C>T ENSP00000432585.1:p.Pro209Leu
ENST00000616899.1:c.230C>T ENSP00000481963.1:p.Pro77Leu
NM_001005609.1:c.626C>T NP_001005609.1:p.Pro209Leu
NM_001005612.2:c.626C>T NP_001005612.2:p.Pro209Leu
NM_001399.4:c.626C>T NP_001390.1:p.Pro209Leu
XM_006724630.2:c.626C>T XP_006724693.1:p.Pro209Leu
XM_011530885.1:c.626C>T XP_011529187.1:p.Pro209Leu
XM_011530885.2:c.626C>T XP_011529187.1:p.Pro209Leu
XM_017029336.1:c.626C>T XP_016884825.1:p.Pro209Leu
NM_001399.5:c.626C>T MANE Select NP_001390.1:p.Pro209Leu
NM_001005609.2:c.626C>T NP_001005609.1:p.Pro209Leu
NM_001005612.3:c.626C>T NP_001005612.2:p.Pro209Leu