Canonical Allele Identifier: CA413448418
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 451339
dbSNP Id: rs1556098806

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027976C>T , CM000685.2:g.70027976C>T GRCh38
NC_000023.10:g.69247826C>T , CM000685.1:g.69247826C>T GRCh37
NC_000023.9:g.69164551C>T NCBI36
NG_009809.1:g.416916C>T
NG_009809.2:g.416910C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.646C>T MANE Select ENSP00000363680.4:p.Pro216Ser
ENST00000374552.8:c.646C>T ENSP00000363680.4:p.Pro216Ser
ENST00000374553.6:c.646C>T ENSP00000363681.2:p.Pro216Ser
ENST00000503592.5:c.250C>T ENSP00000423037.1:p.Pro84Ser
ENST00000524573.5:c.646C>T ENSP00000432585.1:p.Pro216Ser
ENST00000616899.1:c.250C>T ENSP00000481963.1:p.Pro84Ser
NM_001005609.1:c.646C>T NP_001005609.1:p.Pro216Ser
NM_001005612.2:c.646C>T NP_001005612.2:p.Pro216Ser
NM_001399.4:c.646C>T NP_001390.1:p.Pro216Ser
XM_006724630.2:c.646C>T XP_006724693.1:p.Pro216Ser
XM_011530885.1:c.646C>T XP_011529187.1:p.Pro216Ser
XM_011530885.2:c.646C>T XP_011529187.1:p.Pro216Ser
XM_017029336.1:c.646C>T XP_016884825.1:p.Pro216Ser
NM_001399.5:c.646C>T MANE Select NP_001390.1:p.Pro216Ser
NM_001005609.2:c.646C>T NP_001005609.1:p.Pro216Ser
NM_001005612.3:c.646C>T NP_001005612.2:p.Pro216Ser