Canonical Allele Identifier: CA2277943906

Gene: RNF213 RNF213-AS1

Linked Data

• dbSNP Id: rs2079357041
• gnomAD v4: 17-80368180-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80368180T>C , CM000679.2:g.80368180T>C	GRCh38
NC_000017.10:g.78341980T>C , CM000679.1:g.78341980T>C	GRCh37
NC_000017.9:g.75956575T>C	NCBI36
NG_031980.2:g.112320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12155+37T>C (RNF213) MANE Select	ENSP00000464087.1:n.12155+37T>C
ENST00000508628.6:c.12302+37T>C (RNF213)	ENSP00000425956.2:n.12302+37T>C
ENST00000558116.5:n.1484+37T>C (RNF213)
ENST00000582970.5:c.12155+37T>C (RNF213)	ENSP00000464087.1:n.12155+37T>C
NM_001256071.2:c.12155+37T>C (RNF213)	NP_001243000.2:n.12155+37T>C
NR_029376.1:n.241-12892A>G (RNF213-AS1)
XM_005257545.3:c.12302+37T>C (RNF213)	XP_005257602.2:n.12302+37T>C
XM_005257546.3:c.12302+37T>C (RNF213)	XP_005257603.2:n.12302+37T>C
XM_006721995.2:c.12302+37T>C (RNF213)	XP_006722058.1:n.12302+37T>C
XM_011525084.1:c.12302+37T>C (RNF213)	XP_011523386.1:n.12302+37T>C
XM_011525085.1:c.12302+37T>C (RNF213)	XP_011523387.1:n.12302+37T>C
XM_011525086.1:c.12302+37T>C (RNF213)	XP_011523388.1:n.12302+37T>C
XR_243676.3:n.12473+37T>C (RNF213)
XM_005257545.4:c.12302+37T>C (RNF213)	XP_005257602.2:n.12302+37T>C
XM_005257546.4:c.12302+37T>C (RNF213)	XP_005257603.2:n.12302+37T>C
XM_006721995.3:c.12302+37T>C (RNF213)	XP_006722058.1:n.12302+37T>C
XM_011525084.2:c.12302+37T>C (RNF213)	XP_011523386.1:n.12302+37T>C
XM_011525086.2:c.12302+37T>C (RNF213)	XP_011523388.1:n.12302+37T>C
XM_017024905.2:c.11297+37T>C (RNF213)	XP_016880394.1:n.11297+37T>C
NM_001256071.3:c.12155+37T>C (RNF213) MANE Select	NP_001243000.2:n.12155+37T>C