Canonical Allele Identifier: CA401410271
Community Standard Title: NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)
Gene: RNF213 HGNC NCBI
RNF213-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80372536A>G , CM000679.2:g.80372536A>G GRCh38
NC_000017.10:g.78346336A>G , CM000679.1:g.78346336A>G GRCh37
NC_000017.9:g.75960931A>G NCBI36
NG_031980.2:g.116676A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001256071.3:c.12553A>G (RNF213) MANE Select NP_001243000.2:p.Lys4185Glu
ENST00000582970.6:c.12553A>G (RNF213) MANE Select ENSP00000464087.1:p.Lys4185Glu
NM_001256071.2:c.12553A>G (RNF213) NP_001243000.2:p.Lys4185Glu
NR_029376.1:n.241-17248T>C (RNF213-AS1)
ENST00000411702.7:n.351A>G (RNF213)
ENST00000508628.6:c.12700A>G (RNF213) ENSP00000425956.2:p.Lys4234Glu
ENST00000558116.5:n.1882A>G (RNF213)
ENST00000582970.5:c.12553A>G (RNF213) ENSP00000464087.1:p.Lys4185Glu
XM_005257545.3:c.12700A>G (RNF213) XP_005257602.2:p.Lys4234Glu
XM_005257545.4:c.12700A>G (RNF213) XP_005257602.2:p.Lys4234Glu
XM_005257546.3:c.12700A>G (RNF213) XP_005257603.2:p.Lys4234Glu
XM_005257546.4:c.12700A>G (RNF213) XP_005257603.2:p.Lys4234Glu
XM_006721995.2:c.12700A>G (RNF213) XP_006722058.1:p.Lys4234Glu
XM_006721995.3:c.12700A>G (RNF213) XP_006722058.1:p.Lys4234Glu
XM_011525084.1:c.12700A>G (RNF213) XP_011523386.1:p.Lys4234Glu
XM_011525084.2:c.12700A>G (RNF213) XP_011523386.1:p.Lys4234Glu
XM_011525085.1:c.12700A>G (RNF213) XP_011523387.1:p.Lys4234Glu
XM_017024905.2:c.11695A>G (RNF213) XP_016880394.1:p.Lys3899Glu
XR_243676.3:n.12871A>G (RNF213)