Canonical Allele Identifier: CA348050485

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108906346A>C , CM000664.2:g.108906346A>C	GRCh38
NC_000002.11:g.109522802A>C , CM000664.1:g.109522802A>C	GRCh37
NC_000002.10:g.108889234A>C	NCBI36
NG_008257.1:g.88027T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022336.4:c.986T>G (EDAR) MANE Select	NP_071731.1:p.Ile329Ser
ENST00000258443.7:c.986T>G (EDAR) MANE Select	ENSP00000258443.2:p.Ile329Ser
NM_022336.3:c.986T>G (EDAR)	NP_071731.1:p.Ile329Ser
ENST00000258443.6:c.986T>G (EDAR)	ENSP00000258443.2:p.Ile329Ser
ENST00000376651.1:c.1082T>G (EDAR)	ENSP00000365839.1:p.Ile361Ser
ENST00000409271.5:c.1082T>G (EDAR)	ENSP00000386371.1:p.Ile361Ser
XM_006712204.1:c.1082T>G (EDAR)	XP_006712267.1:p.Ile361Ser
XM_011510502.1:c.1133T>G (EDAR)	XP_011508804.1:p.Ile378Ser
XM_011510502.2:c.1226T>G (EDAR)	XP_011508804.2:p.Ile409Ser
XM_011510503.1:c.1037T>G (EDAR)	XP_011508805.1:p.Ile346Ser
XM_011510503.2:c.1130T>G (EDAR)	XP_011508805.2:p.Ile377Ser
XM_011510504.1:c.413T>G (EDAR)	XP_011508806.1:p.Ile138Ser
XM_017004623.2:c.8370+133300A>C (RANBP2)	XP_016860112.1:n.8370+133300A>C