Canonical Allele Identifier: CA502210632

Gene: RNF213 RNF213-AS1

Linked Data

• MyVariant Identifiers: chr17:g.78341894T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80368094T>C , CM000679.2:g.80368094T>C	GRCh38
NC_000017.10:g.78341894T>C , CM000679.1:g.78341894T>C	GRCh37
NC_000017.9:g.75956489T>C	NCBI36
NG_031980.2:g.112234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12106T>C (RNF213) MANE Select	ENSP00000464087.1:p.Leu4036=
ENST00000508628.6:c.12253T>C (RNF213)	ENSP00000425956.2:p.Leu4085=
ENST00000558116.5:n.1435T>C (RNF213)
ENST00000582970.5:c.12106T>C (RNF213)	ENSP00000464087.1:p.Leu4036=
NM_001256071.2:c.12106T>C (RNF213)	NP_001243000.2:p.Leu4036=
NR_029376.1:n.241-12806A>G (RNF213-AS1)
XM_005257545.3:c.12253T>C (RNF213)	XP_005257602.2:p.Leu4085=
XM_005257546.3:c.12253T>C (RNF213)	XP_005257603.2:p.Leu4085=
XM_006721995.2:c.12253T>C (RNF213)	XP_006722058.1:p.Leu4085=
XM_011525084.1:c.12253T>C (RNF213)	XP_011523386.1:p.Leu4085=
XM_011525085.1:c.12253T>C (RNF213)	XP_011523387.1:p.Leu4085=
XM_011525086.1:c.12253T>C (RNF213)	XP_011523388.1:p.Leu4085=
XR_243676.3:n.12424T>C (RNF213)
XM_005257545.4:c.12253T>C (RNF213)	XP_005257602.2:p.Leu4085=
XM_005257546.4:c.12253T>C (RNF213)	XP_005257603.2:p.Leu4085=
XM_006721995.3:c.12253T>C (RNF213)	XP_006722058.1:p.Leu4085=
XM_011525084.2:c.12253T>C (RNF213)	XP_011523386.1:p.Leu4085=
XM_011525086.2:c.12253T>C (RNF213)	XP_011523388.1:p.Leu4085=
XM_017024905.2:c.11248T>C (RNF213)	XP_016880394.1:p.Leu3750=
NM_001256071.3:c.12106T>C (RNF213) MANE Select	NP_001243000.2:p.Leu4036=