Canonical Allele Identifier: CA1278354284

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897119C= , CM000664.2:g.108897119C= GRCh38
NC_000002.11:g.109513575C= , CM000664.1:g.109513575C= GRCh37
NC_000002.10:g.108880007C= NCBI36
NG_008257.1:g.97254G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1135G= (EDAR) MANE Select ENSP00000258443.2:p.Glu379=
ENST00000258443.6:c.1135G= (EDAR) ENSP00000258443.2:p.Glu379=
ENST00000376651.1:c.1231G= (EDAR) ENSP00000365839.1:p.Glu411=
ENST00000409271.5:c.1231G= (EDAR) ENSP00000386371.1:p.Glu411=
NM_022336.3:c.1135G= (EDAR) NP_071731.1:p.Glu379=
XM_006712204.1:c.1231G= (EDAR) XP_006712267.1:p.Glu411=
XM_011510502.1:c.1282G= (EDAR) XP_011508804.1:p.Glu428=
XM_011510503.1:c.1186G= (EDAR) XP_011508805.1:p.Glu396=
XM_011510504.1:c.562G= (EDAR) XP_011508806.1:p.Glu188=
XM_011510502.2:c.1375G= (EDAR) XP_011508804.2:p.Glu459=
XM_011510503.2:c.1279G= (EDAR) XP_011508805.2:p.Glu427=
XM_017004623.2:c.8370+124073C= (RANBP2) XP_016860112.1:n.8370+124073C=
NM_022336.4:c.1135G= (EDAR) MANE Select NP_071731.1:p.Glu379=