Canonical Allele Identifier: CA294911906

Gene: RNF213

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80339547C>T , CM000679.2:g.80339547C>T	GRCh38
NC_000017.10:g.78313347C>T , CM000679.1:g.78313347C>T	GRCh37
NC_000017.9:g.75927942C>T	NCBI36
NG_031980.2:g.83687C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256071.3:c.5180C>T MANE Select	NP_001243000.2:p.Thr1727Met
ENST00000582970.6:c.5180C>T MANE Select	ENSP00000464087.1:p.Thr1727Met
NM_001256071.2:c.5180C>T	NP_001243000.2:p.Thr1727Met
ENST00000508628.6:c.5327C>T	ENSP00000425956.2:p.Thr1776Met
ENST00000582970.5:c.5180C>T	ENSP00000464087.1:p.Thr1727Met
XM_005257545.3:c.5327C>T	XP_005257602.2:p.Thr1776Met
XM_005257545.4:c.5327C>T	XP_005257602.2:p.Thr1776Met
XM_005257546.3:c.5327C>T	XP_005257603.2:p.Thr1776Met
XM_005257546.4:c.5327C>T	XP_005257603.2:p.Thr1776Met
XM_006721995.2:c.5327C>T	XP_006722058.1:p.Thr1776Met
XM_006721995.3:c.5327C>T	XP_006722058.1:p.Thr1776Met
XM_011525084.1:c.5327C>T	XP_011523386.1:p.Thr1776Met
XM_011525084.2:c.5327C>T	XP_011523386.1:p.Thr1776Met
XM_011525085.1:c.5327C>T	XP_011523387.1:p.Thr1776Met
XM_011525086.1:c.5327C>T	XP_011523388.1:p.Thr1776Met
XM_011525086.2:c.5327C>T	XP_011523388.1:p.Thr1776Met
XM_011525087.1:c.5327C>T	XP_011523389.1:p.Thr1776Met
XM_011525087.3:c.5327C>T	XP_011523389.1:p.Thr1776Met
XM_017024905.2:c.4322C>T	XP_016880394.1:p.Thr1441Met
XR_243676.3:n.5498C>T