Canonical Allele Identifier: CA1278358943

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907892C= , CM000664.2:g.108907892C= GRCh38
NC_000002.11:g.109524348C= , CM000664.1:g.109524348C= GRCh37
NC_000002.10:g.108890780C= NCBI36
NG_008257.1:g.86481G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.931G= (EDAR) MANE Select ENSP00000258443.2:p.Glu311=
ENST00000258443.6:c.931G= (EDAR) ENSP00000258443.2:p.Glu311=
ENST00000376651.1:c.1027G= (EDAR) ENSP00000365839.1:p.Glu343=
ENST00000409271.5:c.1027G= (EDAR) ENSP00000386371.1:p.Glu343=
NM_022336.3:c.931G= (EDAR) NP_071731.1:p.Glu311=
XM_006712204.1:c.1027G= (EDAR) XP_006712267.1:p.Glu343=
XM_011510502.1:c.1078G= (EDAR) XP_011508804.1:p.Glu360=
XM_011510503.1:c.982G= (EDAR) XP_011508805.1:p.Glu328=
XM_011510504.1:c.358G= (EDAR) XP_011508806.1:p.Glu120=
XM_011510502.2:c.1171G= (EDAR) XP_011508804.2:p.Glu391=
XM_011510503.2:c.1075G= (EDAR) XP_011508805.2:p.Glu359=
XM_017004623.2:c.8370+134846C= (RANBP2) XP_016860112.1:n.8370+134846C=
NM_022336.4:c.931G= (EDAR) MANE Select NP_071731.1:p.Glu311=