Canonical Allele Identifier: CA502408452
Gene: RNF213 HGNC NCBI
RNF213-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.78346812C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80373012C>T , CM000679.2:g.80373012C>T GRCh38
NC_000017.10:g.78346812C>T , CM000679.1:g.78346812C>T GRCh37
NC_000017.9:g.75961407C>T NCBI36
NG_031980.2:g.117152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000582970.6:c.12789C>T (RNF213) MANE Select ENSP00000464087.1:p.Val4263=
ENST00000411702.7:n.587C>T (RNF213)
ENST00000508628.6:c.12936C>T (RNF213) ENSP00000425956.2:p.Val4312=
ENST00000558116.5:n.2118C>T (RNF213)
ENST00000582970.5:c.12789C>T (RNF213) ENSP00000464087.1:p.Val4263=
NM_001256071.2:c.12789C>T (RNF213) NP_001243000.2:p.Val4263=
NR_029376.1:n.241-17724G>A (RNF213-AS1)
XM_005257545.3:c.12936C>T (RNF213) XP_005257602.2:p.Val4312=
XM_005257546.3:c.12936C>T (RNF213) XP_005257603.2:p.Val4312=
XM_006721995.2:c.12936C>T (RNF213) XP_006722058.1:p.Val4312=
XM_011525084.1:c.12936C>T (RNF213) XP_011523386.1:p.Val4312=
XM_011525085.1:c.12936C>T (RNF213) XP_011523387.1:p.Val4312=
XR_243676.3:n.13107C>T (RNF213)
XM_005257545.4:c.12936C>T (RNF213) XP_005257602.2:p.Val4312=
XM_005257546.4:c.12936C>T (RNF213) XP_005257603.2:p.Val4312=
XM_006721995.3:c.12936C>T (RNF213) XP_006722058.1:p.Val4312=
XM_011525084.2:c.12936C>T (RNF213) XP_011523386.1:p.Val4312=
XM_017024905.2:c.11931C>T (RNF213) XP_016880394.1:p.Val3977=
NM_001256071.3:c.12789C>T (RNF213) MANE Select NP_001243000.2:p.Val4263=