Canonical Allele Identifier: CA401410706

Gene: RNF213 RNF213-AS1

Linked Data

• gnomAD v4: 17-80372980-G-A
• MyVariant Identifiers: chr17:g.78346780G>A (hg19) ; chr17:g.80372980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80372980G>A , CM000679.2:g.80372980G>A	GRCh38
NC_000017.10:g.78346780G>A , CM000679.1:g.78346780G>A	GRCh37
NC_000017.9:g.75961375G>A	NCBI36
NG_031980.2:g.117120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12757G>A (RNF213) MANE Select	ENSP00000464087.1:p.Ala4253Thr
ENST00000411702.7:n.555G>A (RNF213)
ENST00000508628.6:c.12904G>A (RNF213)	ENSP00000425956.2:p.Ala4302Thr
ENST00000558116.5:n.2086G>A (RNF213)
ENST00000582970.5:c.12757G>A (RNF213)	ENSP00000464087.1:p.Ala4253Thr
NM_001256071.2:c.12757G>A (RNF213)	NP_001243000.2:p.Ala4253Thr
NR_029376.1:n.241-17692C>T (RNF213-AS1)
XM_005257545.3:c.12904G>A (RNF213)	XP_005257602.2:p.Ala4302Thr
XM_005257546.3:c.12904G>A (RNF213)	XP_005257603.2:p.Ala4302Thr
XM_006721995.2:c.12904G>A (RNF213)	XP_006722058.1:p.Ala4302Thr
XM_011525084.1:c.12904G>A (RNF213)	XP_011523386.1:p.Ala4302Thr
XM_011525085.1:c.12904G>A (RNF213)	XP_011523387.1:p.Ala4302Thr
XR_243676.3:n.13075G>A (RNF213)
XM_005257545.4:c.12904G>A (RNF213)	XP_005257602.2:p.Ala4302Thr
XM_005257546.4:c.12904G>A (RNF213)	XP_005257603.2:p.Ala4302Thr
XM_006721995.3:c.12904G>A (RNF213)	XP_006722058.1:p.Ala4302Thr
XM_011525084.2:c.12904G>A (RNF213)	XP_011523386.1:p.Ala4302Thr
XM_017024905.2:c.11899G>A (RNF213)	XP_016880394.1:p.Ala3967Thr
NM_001256071.3:c.12757G>A (RNF213) MANE Select	NP_001243000.2:p.Ala4253Thr