Canonical Allele Identifier: CA1278354295

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897142A= , CM000664.2:g.108897142A=	GRCh38
NC_000002.11:g.109513598A= , CM000664.1:g.109513598A=	GRCh37
NC_000002.10:g.108880030A=	NCBI36
NG_008257.1:g.97231T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1112T= (EDAR) MANE Select	ENSP00000258443.2:p.Val371=
ENST00000258443.6:c.1112T= (EDAR)	ENSP00000258443.2:p.Val371=
ENST00000376651.1:c.1208T= (EDAR)	ENSP00000365839.1:p.Val403=
ENST00000409271.5:c.1208T= (EDAR)	ENSP00000386371.1:p.Val403=
NM_022336.3:c.1112T= (EDAR)	NP_071731.1:p.Val371=
XM_006712204.1:c.1208T= (EDAR)	XP_006712267.1:p.Val403=
XM_011510502.1:c.1259T= (EDAR)	XP_011508804.1:p.Val420=
XM_011510503.1:c.1163T= (EDAR)	XP_011508805.1:p.Val388=
XM_011510504.1:c.539T= (EDAR)	XP_011508806.1:p.Val180=
XM_011510502.2:c.1352T= (EDAR)	XP_011508804.2:p.Val451=
XM_011510503.2:c.1256T= (EDAR)	XP_011508805.2:p.Val419=
XM_017004623.2:c.8370+124096A= (RANBP2)	XP_016860112.1:n.8370+124096A=
NM_022336.4:c.1112T= (EDAR) MANE Select	NP_071731.1:p.Val371=