Canonical Allele Identifier: CA1278354258

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897071T= , CM000664.2:g.108897071T= GRCh38
NC_000002.11:g.109513527T= , CM000664.1:g.109513527T= GRCh37
NC_000002.10:g.108879959T= NCBI36
NG_008257.1:g.97302A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1183A= (EDAR) MANE Select ENSP00000258443.2:p.Met395=
ENST00000258443.6:c.1183A= (EDAR) ENSP00000258443.2:p.Met395=
ENST00000376651.1:c.1279A= (EDAR) ENSP00000365839.1:p.Met427=
ENST00000409271.5:c.1279A= (EDAR) ENSP00000386371.1:p.Met427=
NM_022336.3:c.1183A= (EDAR) NP_071731.1:p.Met395=
XM_006712204.1:c.1279A= (EDAR) XP_006712267.1:p.Met427=
XM_011510502.1:c.1330A= (EDAR) XP_011508804.1:p.Met444=
XM_011510503.1:c.1234A= (EDAR) XP_011508805.1:p.Met412=
XM_011510504.1:c.610A= (EDAR) XP_011508806.1:p.Met204=
XM_011510502.2:c.1423A= (EDAR) XP_011508804.2:p.Met475=
XM_011510503.2:c.1327A= (EDAR) XP_011508805.2:p.Met443=
XM_017004623.2:c.8370+124025T= (RANBP2) XP_016860112.1:n.8370+124025T=
NM_022336.4:c.1183A= (EDAR) MANE Select NP_071731.1:p.Met395=