Canonical Allele Identifier: CA1278358968

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907956C= , CM000664.2:g.108907956C= GRCh38
NC_000002.11:g.109524412C= , CM000664.1:g.109524412C= GRCh37
NC_000002.10:g.108890844C= NCBI36
NG_008257.1:g.86417G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.867G= (EDAR) MANE Select ENSP00000258443.2:p.Glu289=
ENST00000258443.6:c.867G= (EDAR) ENSP00000258443.2:p.Glu289=
ENST00000376651.1:c.963G= (EDAR) ENSP00000365839.1:p.Glu321=
ENST00000409271.5:c.963G= (EDAR) ENSP00000386371.1:p.Glu321=
NM_022336.3:c.867G= (EDAR) NP_071731.1:p.Glu289=
XM_006712204.1:c.963G= (EDAR) XP_006712267.1:p.Glu321=
XM_011510502.1:c.1014G= (EDAR) XP_011508804.1:p.Glu338=
XM_011510503.1:c.918G= (EDAR) XP_011508805.1:p.Glu306=
XM_011510504.1:c.294G= (EDAR) XP_011508806.1:p.Glu98=
XM_011510502.2:c.1107G= (EDAR) XP_011508804.2:p.Glu369=
XM_011510503.2:c.1011G= (EDAR) XP_011508805.2:p.Glu337=
XM_017004623.2:c.8370+134910C= (RANBP2) XP_016860112.1:n.8370+134910C=
NM_022336.4:c.867G= (EDAR) MANE Select NP_071731.1:p.Glu289=