Canonical Allele Identifier: CA401411042

Gene: RNF213 RNF213-AS1

Linked Data

• dbSNP Id: rs1399368898
• gnomAD v2: 17-78346936-G-T
• MyVariant Identifiers: chr17:g.78346936G>T (hg19) ; chr17:g.80373136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80373136G>T , CM000679.2:g.80373136G>T	GRCh38
NC_000017.10:g.78346936G>T , CM000679.1:g.78346936G>T	GRCh37
NC_000017.9:g.75961531G>T	NCBI36
NG_031980.2:g.117276G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12913G>T (RNF213) MANE Select	ENSP00000464087.1:p.Val4305Leu
ENST00000411702.7:n.711G>T (RNF213)
ENST00000508628.6:c.13060G>T (RNF213)	ENSP00000425956.2:p.Val4354Leu
ENST00000558116.5:n.2242G>T (RNF213)
ENST00000573038.1:c.68G>T (RNF213)
ENST00000582970.5:c.12913G>T (RNF213)	ENSP00000464087.1:p.Val4305Leu
NM_001256071.2:c.12913G>T (RNF213)	NP_001243000.2:p.Val4305Leu
NR_029376.1:n.241-17848C>A (RNF213-AS1)
XM_005257545.3:c.13060G>T (RNF213)	XP_005257602.2:p.Val4354Leu
XM_005257546.3:c.13060G>T (RNF213)	XP_005257603.2:p.Val4354Leu
XM_006721995.2:c.13060G>T (RNF213)	XP_006722058.1:p.Val4354Leu
XM_011525084.1:c.13060G>T (RNF213)	XP_011523386.1:p.Val4354Leu
XM_011525085.1:c.13060G>T (RNF213)	XP_011523387.1:p.Val4354Leu
XR_243676.3:n.13231G>T (RNF213)
XM_005257545.4:c.13060G>T (RNF213)	XP_005257602.2:p.Val4354Leu
XM_005257546.4:c.13060G>T (RNF213)	XP_005257603.2:p.Val4354Leu
XM_006721995.3:c.13060G>T (RNF213)	XP_006722058.1:p.Val4354Leu
XM_011525084.2:c.13060G>T (RNF213)	XP_011523386.1:p.Val4354Leu
XM_017024905.2:c.12055G>T (RNF213)	XP_016880394.1:p.Val4019Leu
NM_001256071.3:c.12913G>T (RNF213) MANE Select	NP_001243000.2:p.Val4305Leu