Canonical Allele Identifier: CA1278354273

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897100C= , CM000664.2:g.108897100C= GRCh38
NC_000002.11:g.109513556C= , CM000664.1:g.109513556C= GRCh37
NC_000002.10:g.108879988C= NCBI36
NG_008257.1:g.97273G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1154G= (EDAR) MANE Select ENSP00000258443.2:p.Arg385=
ENST00000258443.6:c.1154G= (EDAR) ENSP00000258443.2:p.Arg385=
ENST00000376651.1:c.1250G= (EDAR) ENSP00000365839.1:p.Arg417=
ENST00000409271.5:c.1250G= (EDAR) ENSP00000386371.1:p.Arg417=
NM_022336.3:c.1154G= (EDAR) NP_071731.1:p.Arg385=
XM_006712204.1:c.1250G= (EDAR) XP_006712267.1:p.Arg417=
XM_011510502.1:c.1301G= (EDAR) XP_011508804.1:p.Arg434=
XM_011510503.1:c.1205G= (EDAR) XP_011508805.1:p.Arg402=
XM_011510504.1:c.581G= (EDAR) XP_011508806.1:p.Arg194=
XM_011510502.2:c.1394G= (EDAR) XP_011508804.2:p.Arg465=
XM_011510503.2:c.1298G= (EDAR) XP_011508805.2:p.Arg433=
XM_017004623.2:c.8370+124054C= (RANBP2) XP_016860112.1:n.8370+124054C=
NM_022336.4:c.1154G= (EDAR) MANE Select NP_071731.1:p.Arg385=