Canonical Allele Identifier: CA1278354281

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897115C= , CM000664.2:g.108897115C= GRCh38
NC_000002.11:g.109513571C= , CM000664.1:g.109513571C= GRCh37
NC_000002.10:g.108880003C= NCBI36
NG_008257.1:g.97258G=

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1139G= (EDAR) MANE Select ENSP00000258443.2:p.Ser380=
ENST00000258443.6:c.1139G= (EDAR) ENSP00000258443.2:p.Ser380=
ENST00000376651.1:c.1235G= (EDAR) ENSP00000365839.1:p.Ser412=
ENST00000409271.5:c.1235G= (EDAR) ENSP00000386371.1:p.Ser412=
NM_022336.3:c.1139G= (EDAR) NP_071731.1:p.Ser380=
XM_006712204.1:c.1235G= (EDAR) XP_006712267.1:p.Ser412=
XM_011510502.1:c.1286G= (EDAR) XP_011508804.1:p.Ser429=
XM_011510503.1:c.1190G= (EDAR) XP_011508805.1:p.Ser397=
XM_011510504.1:c.566G= (EDAR) XP_011508806.1:p.Ser189=
XM_011510502.2:c.1379G= (EDAR) XP_011508804.2:p.Ser460=
XM_011510503.2:c.1283G= (EDAR) XP_011508805.2:p.Ser428=
XM_017004623.2:c.8370+124069C= (RANBP2) XP_016860112.1:n.8370+124069C=
NM_022336.4:c.1139G= (EDAR) MANE Select NP_071731.1:p.Ser380=