Canonical Allele Identifier: CA1278358939

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907881G= , CM000664.2:g.108907881G= GRCh38
NC_000002.11:g.109524337G= , CM000664.1:g.109524337G= GRCh37
NC_000002.10:g.108890769G= NCBI36
NG_008257.1:g.86492C=

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.942C= (EDAR) MANE Select ENSP00000258443.2:p.Ala314=
ENST00000258443.6:c.942C= (EDAR) ENSP00000258443.2:p.Ala314=
ENST00000376651.1:c.1038C= (EDAR) ENSP00000365839.1:p.Ala346=
ENST00000409271.5:c.1038C= (EDAR) ENSP00000386371.1:p.Ala346=
NM_022336.3:c.942C= (EDAR) NP_071731.1:p.Ala314=
XM_006712204.1:c.1038C= (EDAR) XP_006712267.1:p.Ala346=
XM_011510502.1:c.1089C= (EDAR) XP_011508804.1:p.Ala363=
XM_011510503.1:c.993C= (EDAR) XP_011508805.1:p.Ala331=
XM_011510504.1:c.369C= (EDAR) XP_011508806.1:p.Ala123=
XM_011510502.2:c.1182C= (EDAR) XP_011508804.2:p.Ala394=
XM_011510503.2:c.1086C= (EDAR) XP_011508805.2:p.Ala362=
XM_017004623.2:c.8370+134835G= (RANBP2) XP_016860112.1:n.8370+134835G=
NM_022336.4:c.942C= (EDAR) MANE Select NP_071731.1:p.Ala314=