Canonical Allele Identifier: CA1278354301

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897155C= , CM000664.2:g.108897155C= GRCh38
NC_000002.11:g.109513611C= , CM000664.1:g.109513611C= GRCh37
NC_000002.10:g.108880043C= NCBI36
NG_008257.1:g.97218G=

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1099G= (EDAR) MANE Select ENSP00000258443.2:p.Glu367=
ENST00000258443.6:c.1099G= (EDAR) ENSP00000258443.2:p.Glu367=
ENST00000376651.1:c.1195G= (EDAR) ENSP00000365839.1:p.Glu399=
ENST00000409271.5:c.1195G= (EDAR) ENSP00000386371.1:p.Glu399=
NM_022336.3:c.1099G= (EDAR) NP_071731.1:p.Glu367=
XM_006712204.1:c.1195G= (EDAR) XP_006712267.1:p.Glu399=
XM_011510502.1:c.1246G= (EDAR) XP_011508804.1:p.Glu416=
XM_011510503.1:c.1150G= (EDAR) XP_011508805.1:p.Glu384=
XM_011510504.1:c.526G= (EDAR) XP_011508806.1:p.Glu176=
XM_011510502.2:c.1339G= (EDAR) XP_011508804.2:p.Glu447=
XM_011510503.2:c.1243G= (EDAR) XP_011508805.2:p.Glu415=
XM_017004623.2:c.8370+124109C= (RANBP2) XP_016860112.1:n.8370+124109C=
NM_022336.4:c.1099G= (EDAR) MANE Select NP_071731.1:p.Glu367=