Canonical Allele Identifier: CA1278354194

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896921G= , CM000664.2:g.108896921G= GRCh38
NC_000002.11:g.109513377G= , CM000664.1:g.109513377G= GRCh37
NC_000002.10:g.108879809G= NCBI36
NG_008257.1:g.97452C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1333C= (EDAR) MANE Select ENSP00000258443.2:p.His445=
ENST00000258443.6:c.1333C= (EDAR) ENSP00000258443.2:p.His445=
ENST00000376651.1:c.1429C= (EDAR) ENSP00000365839.1:p.His477=
ENST00000409271.5:c.1429C= (EDAR) ENSP00000386371.1:p.His477=
NM_022336.3:c.1333C= (EDAR) NP_071731.1:p.His445=
XM_006712204.1:c.1429C= (EDAR) XP_006712267.1:p.His477=
XM_011510502.1:c.1480C= (EDAR) XP_011508804.1:p.His494=
XM_011510503.1:c.1384C= (EDAR) XP_011508805.1:p.His462=
XM_011510504.1:c.760C= (EDAR) XP_011508806.1:p.His254=
XM_011510502.2:c.1573C= (EDAR) XP_011508804.2:p.His525=
XM_011510503.2:c.1477C= (EDAR) XP_011508805.2:p.His493=
XM_017004623.2:c.8370+123875G= (RANBP2) XP_016860112.1:n.8370+123875G=
NM_022336.4:c.1333C= (EDAR) MANE Select NP_071731.1:p.His445=