Canonical Allele Identifier: CA1278358949

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907904G= , CM000664.2:g.108907904G=	GRCh38
NC_000002.11:g.109524360G= , CM000664.1:g.109524360G=	GRCh37
NC_000002.10:g.108890792G=	NCBI36
NG_008257.1:g.86469C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.919C= (EDAR) MANE Select	ENSP00000258443.2:p.His307=
ENST00000258443.6:c.919C= (EDAR)	ENSP00000258443.2:p.His307=
ENST00000376651.1:c.1015C= (EDAR)	ENSP00000365839.1:p.His339=
ENST00000409271.5:c.1015C= (EDAR)	ENSP00000386371.1:p.His339=
NM_022336.3:c.919C= (EDAR)	NP_071731.1:p.His307=
XM_006712204.1:c.1015C= (EDAR)	XP_006712267.1:p.His339=
XM_011510502.1:c.1066C= (EDAR)	XP_011508804.1:p.His356=
XM_011510503.1:c.970C= (EDAR)	XP_011508805.1:p.His324=
XM_011510504.1:c.346C= (EDAR)	XP_011508806.1:p.His116=
XM_011510502.2:c.1159C= (EDAR)	XP_011508804.2:p.His387=
XM_011510503.2:c.1063C= (EDAR)	XP_011508805.2:p.His355=
XM_017004623.2:c.8370+134858G= (RANBP2)	XP_016860112.1:n.8370+134858G=
NM_022336.4:c.919C= (EDAR) MANE Select	NP_071731.1:p.His307=