Canonical Allele Identifier: CA1278358972

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907971G= , CM000664.2:g.108907971G= GRCh38
NC_000002.11:g.109524427G= , CM000664.1:g.109524427G= GRCh37
NC_000002.10:g.108890859G= NCBI36
NG_008257.1:g.86402C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.852C= (EDAR) MANE Select ENSP00000258443.2:p.Val284=
ENST00000258443.6:c.852C= (EDAR) ENSP00000258443.2:p.Val284=
ENST00000376651.1:c.948C= (EDAR) ENSP00000365839.1:p.Val316=
ENST00000409271.5:c.948C= (EDAR) ENSP00000386371.1:p.Val316=
NM_022336.3:c.852C= (EDAR) NP_071731.1:p.Val284=
XM_006712204.1:c.948C= (EDAR) XP_006712267.1:p.Val316=
XM_011510502.1:c.999C= (EDAR) XP_011508804.1:p.Val333=
XM_011510503.1:c.903C= (EDAR) XP_011508805.1:p.Val301=
XM_011510504.1:c.279C= (EDAR) XP_011508806.1:p.Val93=
XM_011510502.2:c.1092C= (EDAR) XP_011508804.2:p.Val364=
XM_011510503.2:c.996C= (EDAR) XP_011508805.2:p.Val332=
XM_017004623.2:c.8370+134925G= (RANBP2) XP_016860112.1:n.8370+134925G=
NM_022336.4:c.852C= (EDAR) MANE Select NP_071731.1:p.Val284=