Canonical Allele Identifier: CA1585665

Gene: RBKS MRPL33

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27781763G>A , CM000664.2:g.27781763G>A	GRCh38
NC_000002.11:g.28004630G>A , CM000664.1:g.28004630G>A	GRCh37
NC_000002.10:g.27858134G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022128.3:c.821C>T (RBKS) MANE Select	NP_071411.1:p.Ala274Val
ENST00000302188.8:c.821C>T (RBKS) MANE Select	ENSP00000306817.3:p.Ala274Val
NM_001287580.1:c.620C>T (RBKS)	NP_001274509.1:p.Ala207Val
NM_001287580.2:c.620C>T (RBKS)	NP_001274509.1:p.Ala207Val
NM_022128.2:c.821C>T (RBKS)	NP_071411.1:p.Ala274Val
ENST00000302188.7:c.821C>T (RBKS)	ENSP00000306817.3:p.Ala274Val
ENST00000448427.1:c.42-809G>A (MRPL33)	ENSP00000407385.1:n.42-809G>A
ENST00000449378.1:c.*1748C>T (RBKS)	ENSP00000413789.1:n.*1748C>T
ENST00000612015.1:c.40+114C>T (RBKS)	ENSP00000483033.1:n.40+114C>T