Canonical Allele Identifier: CA1278354314

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897181C= , CM000664.2:g.108897181C= GRCh38
NC_000002.11:g.109513637C= , CM000664.1:g.109513637C= GRCh37
NC_000002.10:g.108880069C= NCBI36
NG_008257.1:g.97192G=

Transcript Alleles

HGVS Amino-acid Change
NM_022336.4:c.1073G= (EDAR) MANE Select NP_071731.1:p.Arg358=
ENST00000258443.7:c.1073G= (EDAR) MANE Select ENSP00000258443.2:p.Arg358=
NM_022336.3:c.1073G= (EDAR) NP_071731.1:p.Arg358=
ENST00000258443.6:c.1073G= (EDAR) ENSP00000258443.2:p.Arg358=
ENST00000376651.1:c.1169G= (EDAR) ENSP00000365839.1:p.Arg390=
ENST00000409271.5:c.1169G= (EDAR) ENSP00000386371.1:p.Arg390=
XM_006712204.1:c.1169G= (EDAR) XP_006712267.1:p.Arg390=
XM_011510502.1:c.1220G= (EDAR) XP_011508804.1:p.Arg407=
XM_011510502.2:c.1313G= (EDAR) XP_011508804.2:p.Arg438=
XM_011510503.1:c.1124G= (EDAR) XP_011508805.1:p.Arg375=
XM_011510503.2:c.1217G= (EDAR) XP_011508805.2:p.Arg406=
XM_011510504.1:c.500G= (EDAR) XP_011508806.1:p.Arg167=
XM_017004623.2:c.8370+124135C= (RANBP2) XP_016860112.1:n.8370+124135C=