Canonical Allele Identifier: CA1278354287

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897123G= , CM000664.2:g.108897123G=	GRCh38
NC_000002.11:g.109513579G= , CM000664.1:g.109513579G=	GRCh37
NC_000002.10:g.108880011G=	NCBI36
NG_008257.1:g.97250C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1131C= (EDAR) MANE Select	ENSP00000258443.2:p.Leu377=
ENST00000258443.6:c.1131C= (EDAR)	ENSP00000258443.2:p.Leu377=
ENST00000376651.1:c.1227C= (EDAR)	ENSP00000365839.1:p.Leu409=
ENST00000409271.5:c.1227C= (EDAR)	ENSP00000386371.1:p.Leu409=
NM_022336.3:c.1131C= (EDAR)	NP_071731.1:p.Leu377=
XM_006712204.1:c.1227C= (EDAR)	XP_006712267.1:p.Leu409=
XM_011510502.1:c.1278C= (EDAR)	XP_011508804.1:p.Leu426=
XM_011510503.1:c.1182C= (EDAR)	XP_011508805.1:p.Leu394=
XM_011510504.1:c.558C= (EDAR)	XP_011508806.1:p.Leu186=
XM_011510502.2:c.1371C= (EDAR)	XP_011508804.2:p.Leu457=
XM_011510503.2:c.1275C= (EDAR)	XP_011508805.2:p.Leu425=
XM_017004623.2:c.8370+124077G= (RANBP2)	XP_016860112.1:n.8370+124077G=
NM_022336.4:c.1131C= (EDAR) MANE Select	NP_071731.1:p.Leu377=