Canonical Allele Identifier: CA348050516
Community Standard Title: NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108906353T>A , CM000664.2:g.108906353T>A GRCh38
NC_000002.11:g.109522809T>A , CM000664.1:g.109522809T>A GRCh37
NC_000002.10:g.108889241T>A NCBI36
NG_008257.1:g.88020A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022336.4:c.979A>T (EDAR) MANE Select NP_071731.1:p.Lys327Ter
ENST00000258443.7:c.979A>T (EDAR) MANE Select ENSP00000258443.2:p.Lys327Ter
NM_022336.3:c.979A>T (EDAR) NP_071731.1:p.Lys327Ter
ENST00000258443.6:c.979A>T (EDAR) ENSP00000258443.2:p.Lys327Ter
ENST00000376651.1:c.1075A>T (EDAR) ENSP00000365839.1:p.Lys359Ter
ENST00000409271.5:c.1075A>T (EDAR) ENSP00000386371.1:p.Lys359Ter
XM_006712204.1:c.1075A>T (EDAR) XP_006712267.1:p.Lys359Ter
XM_011510502.1:c.1126A>T (EDAR) XP_011508804.1:p.Lys376Ter
XM_011510502.2:c.1219A>T (EDAR) XP_011508804.2:p.Lys407Ter
XM_011510503.1:c.1030A>T (EDAR) XP_011508805.1:p.Lys344Ter
XM_011510503.2:c.1123A>T (EDAR) XP_011508805.2:p.Lys375Ter
XM_011510504.1:c.406A>T (EDAR) XP_011508806.1:p.Lys136Ter
XM_017004623.2:c.8370+133307T>A (RANBP2) XP_016860112.1:n.8370+133307T>A