Canonical Allele Identifier: CA1278358983

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108908000C= , CM000664.2:g.108908000C= GRCh38
NC_000002.11:g.109524456C= , CM000664.1:g.109524456C= GRCh37
NC_000002.10:g.108890888C= NCBI36
NG_008257.1:g.86373G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.823G= (EDAR) MANE Select ENSP00000258443.2:p.Glu275=
ENST00000258443.6:c.823G= (EDAR) ENSP00000258443.2:p.Glu275=
ENST00000376651.1:c.919G= (EDAR) ENSP00000365839.1:p.Glu307=
ENST00000409271.5:c.919G= (EDAR) ENSP00000386371.1:p.Glu307=
NM_022336.3:c.823G= (EDAR) NP_071731.1:p.Glu275=
XM_006712204.1:c.919G= (EDAR) XP_006712267.1:p.Glu307=
XM_011510502.1:c.970G= (EDAR) XP_011508804.1:p.Glu324=
XM_011510503.1:c.874G= (EDAR) XP_011508805.1:p.Glu292=
XM_011510504.1:c.250G= (EDAR) XP_011508806.1:p.Glu84=
XM_011510502.2:c.1063G= (EDAR) XP_011508804.2:p.Glu355=
XM_011510503.2:c.967G= (EDAR) XP_011508805.2:p.Glu323=
XM_017004623.2:c.8370+134954C= (RANBP2) XP_016860112.1:n.8370+134954C=
NM_022336.4:c.823G= (EDAR) MANE Select NP_071731.1:p.Glu275=