Canonical Allele Identifier: CA407761051

Gene: CNOT3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54145677G>A , CM000681.2:g.54145677G>A	GRCh38
NC_000019.8:g.59341225G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221232.11:c.563G>A MANE Select	ENSP00000221232.5:p.Arg188His
ENST00000440571.6:c.566G>A	ENSP00000398463.2:p.Arg189His
ENST00000617930.2:c.563G>A	ENSP00000496602.1:p.Arg188His
ENST00000618939.5:n.1101G>A
ENST00000644245.1:c.563G>A	ENSP00000496534.1:p.Arg188His
ENST00000646002.1:c.20G>A	ENSP00000495445.1:p.Arg7His
ENST00000221232.9:c.563G>A	ENSP00000221232.5:p.Arg188His
ENST00000358389.7:c.563G>A	ENSP00000351159.4:p.Arg188His
ENST00000440571.5:c.328G>A
ENST00000447684.5:c.20G>A	ENSP00000411587.2:p.Arg7His
ENST00000613073.4:c.374G>A
ENST00000618939.4:n.1076G>A
NM_014516.3:c.563G>A	NP_055331.1:p.Arg188His
XM_005278279.1:c.566G>A	XP_005278336.1:p.Arg189His
XM_005278280.2:c.566G>A	XP_005278337.1:p.Arg189His
XM_005278281.1:c.563G>A	XP_005278338.1:p.Arg188His
XM_005278282.1:c.566G>A	XP_005278339.1:p.Arg189His
XM_011526992.1:c.566G>A	XP_011525294.1:p.Arg189His
XM_011526993.1:c.566G>A	XP_011525295.1:p.Arg189His
XR_254515.1:n.887G>A
XR_254516.3:n.887G>A
XM_005278279.2:c.566G>A	XP_005278336.1:p.Arg189His
XM_005278281.2:c.563G>A	XP_005278338.1:p.Arg188His
XM_005278282.3:c.566G>A	XP_005278339.1:p.Arg189His
XM_011526992.2:c.566G>A	XP_011525294.1:p.Arg189His
XM_011526993.3:c.566G>A	XP_011525295.1:p.Arg189His
XR_002958318.1:n.861G>A
XR_002958319.1:n.848G>A
XR_254515.3:n.858G>A
NM_014516.4:c.563G>A MANE Select	NP_055331.1:p.Arg188His