Canonical Allele Identifier: CA2651511463

Gene: RBCK1

Linked Data

• gnomAD v4: 20-419341-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.419341C>A , CM000682.2:g.419341C>A	GRCh38
NC_000020.10:g.399985C>A , CM000682.1:g.399985C>A	GRCh37
NC_000020.9:g.347985C>A	NCBI36
NG_033233.1:g.16277C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697804.1:c.461-6C>A	ENSP00000513444.1:n.461-6C>A
ENST00000697805.1:c.512-6C>A	ENSP00000513446.1:n.512-6C>A
ENST00000356286.10:c.461-6C>A MANE Select	ENSP00000348632.6:n.461-6C>A
ENST00000640614.1:c.112-6C>A	ENSP00000491402.1:n.112-6C>A
ENST00000353660.7:c.335-6C>A	ENSP00000254960.5:n.335-6C>A
ENST00000356286.9:c.461-6C>A	ENSP00000348632.5:n.461-6C>A
ENST00000382181.2:c.112-6C>A	ENSP00000371616.2:n.112-6C>A
ENST00000382214.7:c.461-6C>A	ENSP00000371649.3:n.461-6C>A
ENST00000414880.1:c.559-6C>A
ENST00000415942.5:c.461-6C>A	ENSP00000405288.1:n.461-6C>A
NM_006462.4:c.335-6C>A	NP_006453.1:n.335-6C>A
NM_031229.2:c.461-6C>A	NP_112506.2:n.461-6C>A
XM_005260645.1:c.512-6C>A	XP_005260702.1:n.512-6C>A
XM_011529137.1:c.635-6C>A	XP_011527439.1:n.635-6C>A
XM_011529138.1:c.584-6C>A	XP_011527440.1:n.584-6C>A
XM_011529139.1:c.635-6C>A	XP_011527441.1:n.635-6C>A
XM_011529140.1:c.635-6C>A	XP_011527442.1:n.635-6C>A
XR_430267.1:n.920-6C>A
XR_937029.1:n.1088-6C>A
NM_001323956.1:c.112-6C>A	NP_001310885.1:n.112-6C>A
NM_001323958.1:c.112-6C>A	NP_001310887.1:n.112-6C>A
NM_006462.5:c.335-6C>A	NP_006453.1:n.335-6C>A
NM_031229.3:c.461-6C>A	NP_112506.2:n.461-6C>A
NR_136659.1:n.1169-6C>A
XM_005260645.2:c.512-6C>A	XP_005260702.1:n.512-6C>A
XM_011529137.2:c.635-6C>A	XP_011527439.1:n.635-6C>A
XM_011529139.3:c.635-6C>A	XP_011527441.1:n.635-6C>A
XM_011529140.2:c.635-6C>A	XP_011527442.1:n.635-6C>A
XM_017027594.2:c.112-6C>A	XP_016883083.1:n.112-6C>A
XM_017027595.1:c.112-6C>A	XP_016883084.1:n.112-6C>A
XR_001754130.2:n.1094-6C>A
XR_001754131.1:n.920-6C>A
XR_937029.3:n.1094-6C>A
NM_001323958.2:c.112-6C>A	NP_001310887.1:n.112-6C>A
NM_006462.6:c.335-6C>A	NP_006453.1:n.335-6C>A
NM_031229.4:c.461-6C>A MANE Select	NP_112506.2:n.461-6C>A
NR_136659.2:n.920-6C>A
NM_001323956.2:c.112-6C>A	NP_001310885.1:n.112-6C>A