Canonical Allele Identifier: CA8823025

Gene: RNF213 RNF213-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80386360G>A , CM000679.2:g.80386360G>A	GRCh38
NC_000017.10:g.78360160G>A , CM000679.1:g.78360160G>A	GRCh37
NC_000017.9:g.75974755G>A	NCBI36
NG_031980.2:g.130500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256071.3:c.14650G>A (RNF213) MANE Select	NP_001243000.2:p.Val4884Ile
ENST00000582970.6:c.14650G>A (RNF213) MANE Select	ENSP00000464087.1:p.Val4884Ile
NM_001256071.2:c.14650G>A (RNF213)	NP_001243000.2:p.Val4884Ile
NR_029376.1:n.240+28569C>T (RNF213-AS1)
ENST00000411702.7:n.3699G>A (RNF213)
ENST00000427003.7:n.764G>A (RNF213)
ENST00000508628.6:c.14797G>A (RNF213)	ENSP00000425956.2:p.Val4933Ile
ENST00000570776.1:n.494G>A (RNF213)
ENST00000582970.5:c.14650G>A (RNF213)	ENSP00000464087.1:p.Val4884Ile
XM_005257545.3:c.14797G>A (RNF213)	XP_005257602.2:p.Val4933Ile
XM_005257545.4:c.14797G>A (RNF213)	XP_005257602.2:p.Val4933Ile
XM_005257546.3:c.14797G>A (RNF213)	XP_005257603.2:p.Val4933Ile
XM_005257546.4:c.14797G>A (RNF213)	XP_005257603.2:p.Val4933Ile
XM_006721995.2:c.14797G>A (RNF213)	XP_006722058.1:p.Val4933Ile
XM_006721995.3:c.14797G>A (RNF213)	XP_006722058.1:p.Val4933Ile
XM_017024905.2:c.13792G>A (RNF213)	XP_016880394.1:p.Val4598Ile