Canonical Allele Identifier: CA1034837371

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696601812
• gnomAD v3: 2-108896767-G-T
• gnomAD v4: 2-108896767-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896767G>T , CM000664.2:g.108896767G>T	GRCh38
NC_000002.11:g.109513223G>T , CM000664.1:g.109513223G>T	GRCh37
NC_000002.10:g.108879655G>T	NCBI36
NG_008257.1:g.97606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.*140C>A (EDAR) MANE Select	ENSP00000258443.2:n.*140C>A
ENST00000258443.6:c.*140C>A (EDAR)	ENSP00000258443.2:n.*140C>A
ENST00000376651.1:c.*140C>A (EDAR)	ENSP00000365839.1:n.*140C>A
ENST00000409271.5:c.*140C>A (EDAR)	ENSP00000386371.1:n.*140C>A
NM_022336.3:c.*140C>A (EDAR)	NP_071731.1:n.*140C>A
XM_006712204.1:c.*140C>A (EDAR)	XP_006712267.1:n.*140C>A
XM_011510502.1:c.*140C>A (EDAR)	XP_011508804.1:n.*140C>A
XM_011510503.1:c.*140C>A (EDAR)	XP_011508805.1:n.*140C>A
XM_011510504.1:c.*140C>A (EDAR)	XP_011508806.1:n.*140C>A
XM_011510502.2:c.*140C>A (EDAR)	XP_011508804.2:n.*140C>A
XM_011510503.2:c.*140C>A (EDAR)	XP_011508805.2:n.*140C>A
XM_017004623.2:c.8370+123721G>T (RANBP2)	XP_016860112.1:n.8370+123721G>T
NM_022336.4:c.*140C>A (EDAR) MANE Select	NP_071731.1:n.*140C>A