Canonical Allele Identifier: CA8819617
Community Standard Title: NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
Gene: RNF213 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80294947A>G , CM000679.2:g.80294947A>G GRCh38
NC_000017.10:g.78268746A>G , CM000679.1:g.78268746A>G GRCh37
NC_000017.9:g.75883341A>G NCBI36
NG_031980.2:g.39087A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001256071.3:c.1699A>G MANE Select NP_001243000.2:p.Met567Val
ENST00000582970.6:c.1699A>G MANE Select ENSP00000464087.1:p.Met567Val
NM_001256071.2:c.1699A>G NP_001243000.2:p.Met567Val
NM_020954.3:c.1699A>G NP_066005.2:p.Met567Val
NM_020954.4:c.1699A>G NP_066005.2:p.Met567Val
ENST00000319921.4:c.1699A>G ENSP00000324392.4:p.Met567Val
ENST00000508628.6:c.1846A>G ENSP00000425956.2:p.Met616Val
ENST00000559070.5:n.1294A>G
ENST00000582970.5:c.1699A>G ENSP00000464087.1:p.Met567Val
XM_005257545.3:c.1846A>G XP_005257602.2:p.Met616Val
XM_005257545.4:c.1846A>G XP_005257602.2:p.Met616Val
XM_005257546.3:c.1846A>G XP_005257603.2:p.Met616Val
XM_005257546.4:c.1846A>G XP_005257603.2:p.Met616Val
XM_006721995.2:c.1846A>G XP_006722058.1:p.Met616Val
XM_006721995.3:c.1846A>G XP_006722058.1:p.Met616Val
XM_011525084.1:c.1846A>G XP_011523386.1:p.Met616Val
XM_011525084.2:c.1846A>G XP_011523386.1:p.Met616Val
XM_011525085.1:c.1846A>G XP_011523387.1:p.Met616Val
XM_011525086.1:c.1846A>G XP_011523388.1:p.Met616Val
XM_011525086.2:c.1846A>G XP_011523388.1:p.Met616Val
XM_011525087.1:c.1846A>G XP_011523389.1:p.Met616Val
XM_011525087.3:c.1846A>G XP_011523389.1:p.Met616Val
XM_017024905.2:c.841A>G XP_016880394.1:p.Met281Val
XR_243676.3:n.2017A>G