Canonical Allele Identifier: CA1278354227

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896985A= , CM000664.2:g.108896985A= GRCh38
NC_000002.11:g.109513441A= , CM000664.1:g.109513441A= GRCh37
NC_000002.10:g.108879873A= NCBI36
NG_008257.1:g.97388T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1269T= (EDAR) MANE Select ENSP00000258443.2:p.Ala423=
ENST00000258443.6:c.1269T= (EDAR) ENSP00000258443.2:p.Ala423=
ENST00000376651.1:c.1365T= (EDAR) ENSP00000365839.1:p.Ala455=
ENST00000409271.5:c.1365T= (EDAR) ENSP00000386371.1:p.Ala455=
NM_022336.3:c.1269T= (EDAR) NP_071731.1:p.Ala423=
XM_006712204.1:c.1365T= (EDAR) XP_006712267.1:p.Ala455=
XM_011510502.1:c.1416T= (EDAR) XP_011508804.1:p.Ala472=
XM_011510503.1:c.1320T= (EDAR) XP_011508805.1:p.Ala440=
XM_011510504.1:c.696T= (EDAR) XP_011508806.1:p.Ala232=
XM_011510502.2:c.1509T= (EDAR) XP_011508804.2:p.Ala503=
XM_011510503.2:c.1413T= (EDAR) XP_011508805.2:p.Ala471=
XM_017004623.2:c.8370+123939A= (RANBP2) XP_016860112.1:n.8370+123939A=
NM_022336.4:c.1269T= (EDAR) MANE Select NP_071731.1:p.Ala423=