Canonical Allele Identifier: CA8820446

Gene: RNF213

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80343311G>A , CM000679.2:g.80343311G>A	GRCh38
NC_000017.10:g.78317111G>A , CM000679.1:g.78317111G>A	GRCh37
NC_000017.9:g.75931706G>A	NCBI36
NG_031980.2:g.87451G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256071.3:c.6169G>A MANE Select	NP_001243000.2:p.Asp2057Asn
ENST00000582970.6:c.6169G>A MANE Select	ENSP00000464087.1:p.Asp2057Asn
NM_001256071.2:c.6169G>A	NP_001243000.2:p.Asp2057Asn
ENST00000508628.6:c.6316G>A	ENSP00000425956.2:p.Asp2106Asn
ENST00000582970.5:c.6169G>A	ENSP00000464087.1:p.Asp2057Asn
XM_005257545.3:c.6316G>A	XP_005257602.2:p.Asp2106Asn
XM_005257545.4:c.6316G>A	XP_005257602.2:p.Asp2106Asn
XM_005257546.3:c.6316G>A	XP_005257603.2:p.Asp2106Asn
XM_005257546.4:c.6316G>A	XP_005257603.2:p.Asp2106Asn
XM_006721995.2:c.6316G>A	XP_006722058.1:p.Asp2106Asn
XM_006721995.3:c.6316G>A	XP_006722058.1:p.Asp2106Asn
XM_011525084.1:c.6316G>A	XP_011523386.1:p.Asp2106Asn
XM_011525084.2:c.6316G>A	XP_011523386.1:p.Asp2106Asn
XM_011525085.1:c.6316G>A	XP_011523387.1:p.Asp2106Asn
XM_011525086.1:c.6316G>A	XP_011523388.1:p.Asp2106Asn
XM_011525086.2:c.6316G>A	XP_011523388.1:p.Asp2106Asn
XM_011525087.1:c.6316G>A	XP_011523389.1:p.Asp2106Asn
XM_011525087.3:c.6316G>A	XP_011523389.1:p.Asp2106Asn
XM_017024905.2:c.5311G>A	XP_016880394.1:p.Asp1771Asn
XR_243676.3:n.6487G>A