Canonical Allele Identifier: CA1278354261

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897075G= , CM000664.2:g.108897075G= GRCh38
NC_000002.11:g.109513531G= , CM000664.1:g.109513531G= GRCh37
NC_000002.10:g.108879963G= NCBI36
NG_008257.1:g.97298C=

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1179C= (EDAR) MANE Select ENSP00000258443.2:p.Asp393=
ENST00000258443.6:c.1179C= (EDAR) ENSP00000258443.2:p.Asp393=
ENST00000376651.1:c.1275C= (EDAR) ENSP00000365839.1:p.Asp425=
ENST00000409271.5:c.1275C= (EDAR) ENSP00000386371.1:p.Asp425=
NM_022336.3:c.1179C= (EDAR) NP_071731.1:p.Asp393=
XM_006712204.1:c.1275C= (EDAR) XP_006712267.1:p.Asp425=
XM_011510502.1:c.1326C= (EDAR) XP_011508804.1:p.Asp442=
XM_011510503.1:c.1230C= (EDAR) XP_011508805.1:p.Asp410=
XM_011510504.1:c.606C= (EDAR) XP_011508806.1:p.Asp202=
XM_011510502.2:c.1419C= (EDAR) XP_011508804.2:p.Asp473=
XM_011510503.2:c.1323C= (EDAR) XP_011508805.2:p.Asp441=
XM_017004623.2:c.8370+124029G= (RANBP2) XP_016860112.1:n.8370+124029G=
NM_022336.4:c.1179C= (EDAR) MANE Select NP_071731.1:p.Asp393=