Canonical Allele Identifier: CA401382467
Community Standard Title: NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu)
Gene: RNF213 HGNC NCBI
RNF213-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80386791T>A , CM000679.2:g.80386791T>A GRCh38
NC_000017.10:g.78360591T>A , CM000679.1:g.78360591T>A GRCh37
NC_000017.9:g.75975186T>A NCBI36
NG_031980.2:g.130931T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001256071.3:c.14822T>A (RNF213) MANE Select NP_001243000.2:p.Val4941Glu
ENST00000582970.6:c.14822T>A (RNF213) MANE Select ENSP00000464087.1:p.Val4941Glu
NM_001256071.2:c.14822T>A (RNF213) NP_001243000.2:p.Val4941Glu
NR_029376.1:n.240+28138A>T (RNF213-AS1)
ENST00000411702.7:n.3871T>A (RNF213)
ENST00000427003.7:n.936T>A (RNF213)
ENST00000508628.6:c.14969T>A (RNF213) ENSP00000425956.2:p.Val4990Glu
ENST00000560083.1:n.147T>A (RNF213)
ENST00000582970.5:c.14822T>A (RNF213) ENSP00000464087.1:p.Val4941Glu
XM_005257545.3:c.14969T>A (RNF213) XP_005257602.2:p.Val4990Glu
XM_005257545.4:c.14969T>A (RNF213) XP_005257602.2:p.Val4990Glu
XM_005257546.3:c.14969T>A (RNF213) XP_005257603.2:p.Val4990Glu
XM_005257546.4:c.14969T>A (RNF213) XP_005257603.2:p.Val4990Glu
XM_006721995.2:c.14969T>A (RNF213) XP_006722058.1:p.Val4990Glu
XM_006721995.3:c.14969T>A (RNF213) XP_006722058.1:p.Val4990Glu
XM_017024905.2:c.13964T>A (RNF213) XP_016880394.1:p.Val4655Glu