Canonical Allele Identifier: CA1278354212

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896954A= , CM000664.2:g.108896954A= GRCh38
NC_000002.11:g.109513410A= , CM000664.1:g.109513410A= GRCh37
NC_000002.10:g.108879842A= NCBI36
NG_008257.1:g.97419T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1300T= (EDAR) MANE Select ENSP00000258443.2:p.Trp434=
ENST00000258443.6:c.1300T= (EDAR) ENSP00000258443.2:p.Trp434=
ENST00000376651.1:c.1396T= (EDAR) ENSP00000365839.1:p.Trp466=
ENST00000409271.5:c.1396T= (EDAR) ENSP00000386371.1:p.Trp466=
NM_022336.3:c.1300T= (EDAR) NP_071731.1:p.Trp434=
XM_006712204.1:c.1396T= (EDAR) XP_006712267.1:p.Trp466=
XM_011510502.1:c.1447T= (EDAR) XP_011508804.1:p.Trp483=
XM_011510503.1:c.1351T= (EDAR) XP_011508805.1:p.Trp451=
XM_011510504.1:c.727T= (EDAR) XP_011508806.1:p.Trp243=
XM_011510502.2:c.1540T= (EDAR) XP_011508804.2:p.Trp514=
XM_011510503.2:c.1444T= (EDAR) XP_011508805.2:p.Trp482=
XM_017004623.2:c.8370+123908A= (RANBP2) XP_016860112.1:n.8370+123908A=
NM_022336.4:c.1300T= (EDAR) MANE Select NP_071731.1:p.Trp434=