Canonical Allele Identifier: CA2972894436

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108965779C>T , CM000664.2:g.108965779C>T	GRCh38
NC_000002.11:g.109582235C>T , CM000664.1:g.109582235C>T	GRCh37
NC_000002.10:g.108948667C>T	NCBI36
NG_008257.1:g.28594G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022336.4:c.-19+23181G>A (EDAR) MANE Select	NP_071731.1:n.-19+23181G>A
ENST00000258443.7:c.-19+23181G>A (EDAR) MANE Select	ENSP00000258443.2:n.-19+23181G>A
NM_022336.3:c.-19+23181G>A (EDAR)	NP_071731.1:n.-19+23181G>A
ENST00000258443.6:c.-19+23181G>A (EDAR)	ENSP00000258443.2:n.-19+23181G>A
ENST00000376651.1:c.-19+23181G>A (EDAR)	ENSP00000365839.1:n.-19+23181G>A
ENST00000409271.5:c.-135+23181G>A (EDAR)	ENSP00000386371.1:n.-135+23181G>A
XM_006712204.1:c.-19+23181G>A (EDAR)	XP_006712267.1:n.-19+23181G>A
XM_011510502.2:c.-31G>A (EDAR)	XP_011508804.2:n.-31G>A
XM_011510503.2:c.-31G>A (EDAR)	XP_011508805.2:n.-31G>A
XM_017004623.2:c.8370+192733C>T (RANBP2)	XP_016860112.1:n.8370+192733C>T