Canonical Allele Identifier: CA1278358937

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907874T= , CM000664.2:g.108907874T= GRCh38
NC_000002.11:g.109524330T= , CM000664.1:g.109524330T= GRCh37
NC_000002.10:g.108890762T= NCBI36
NG_008257.1:g.86499A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.949A= (EDAR) MANE Select ENSP00000258443.2:p.Asn317=
ENST00000258443.6:c.949A= (EDAR) ENSP00000258443.2:p.Asn317=
ENST00000376651.1:c.1045A= (EDAR) ENSP00000365839.1:p.Asn349=
ENST00000409271.5:c.1045A= (EDAR) ENSP00000386371.1:p.Asn349=
NM_022336.3:c.949A= (EDAR) NP_071731.1:p.Asn317=
XM_006712204.1:c.1045A= (EDAR) XP_006712267.1:p.Asn349=
XM_011510502.1:c.1096A= (EDAR) XP_011508804.1:p.Asn366=
XM_011510503.1:c.1000A= (EDAR) XP_011508805.1:p.Asn334=
XM_011510504.1:c.376A= (EDAR) XP_011508806.1:p.Asn126=
XM_011510502.2:c.1189A= (EDAR) XP_011508804.2:p.Asn397=
XM_011510503.2:c.1093A= (EDAR) XP_011508805.2:p.Asn365=
XM_017004623.2:c.8370+134828T= (RANBP2) XP_016860112.1:n.8370+134828T=
NM_022336.4:c.949A= (EDAR) MANE Select NP_071731.1:p.Asn317=