Canonical Allele Identifier: CA8629808

Gene: CDK5RAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47976785G>T , CM000679.2:g.47976785G>T	GRCh38
NC_000017.10:g.46054151G>T , CM000679.1:g.46054151G>T	GRCh37
NC_000017.9:g.43409150G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_176096.3:c.872G>T MANE Select	NP_788276.1:p.Gly291Val
ENST00000338399.9:c.872G>T MANE Select	ENSP00000344683.4:p.Gly291Val
NM_001278197.1:c.947G>T	NP_001265126.1:p.Gly316Val
NM_001278197.2:c.947G>T	NP_001265126.1:p.Gly316Val
NM_001278198.1:c.197G>T	NP_001265127.1:p.Gly66Val
NM_001278198.2:c.197G>T	NP_001265127.1:p.Gly66Val
NM_001278216.1:c.197G>T	NP_001265145.1:p.Gly66Val
NM_001278216.2:c.197G>T	NP_001265145.1:p.Gly66Val
NM_001278217.1:c.611G>T	NP_001265146.1:p.Gly204Val
NM_001278217.2:c.611G>T	NP_001265146.1:p.Gly204Val
NM_176096.2:c.872G>T	NP_788276.1:p.Gly291Val
ENST00000338399.8:c.872G>T	ENSP00000344683.4:p.Gly291Val
ENST00000536708.6:c.947G>T	ENSP00000438886.2:p.Gly316Val
ENST00000577802.1:n.158G>T
ENST00000580287.5:n.1817G>T
ENST00000580391.5:c.*558G>T	ENSP00000463878.1:n.*558G>T
ENST00000580670.6:c.870G>T	ENSP00000463442.2:n.870G>T
ENST00000582114.5:n.325G>T
ENST00000583697.1:c.64G>T
ENST00000584063.5:n.1840G>T
ENST00000584168.5:n.1795G>T
ENST00000584991.5:c.*558G>T	ENSP00000462012.1:n.*558G>T
ENST00000585163.5:n.1604G>T
XM_011525295.1:c.947G>T	XP_011523597.1:p.Gly316Val
XM_011525296.1:c.872G>T	XP_011523598.1:p.Gly291Val
XM_011525297.1:c.947G>T	XP_011523599.1:p.Gly316Val
XM_011525298.1:c.611G>T	XP_011523600.1:p.Gly204Val
XM_011525299.1:c.593G>T	XP_011523601.1:p.Gly198Val
XM_017025164.2:c.611G>T	XP_016880653.1:p.Gly204Val
XM_017025165.2:c.611G>T	XP_016880654.1:p.Gly204Val
XM_017025166.2:c.593G>T	XP_016880655.1:p.Gly198Val