Canonical Allele Identifier: CA1405585504
Community Standard Title: NM_020191.4(MRPS22):c.787C= (p.Arg263=)
Gene: MRPS22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139352701C= , CM000665.2:g.139352701C= GRCh38
NC_000003.11:g.139071543C= , CM000665.1:g.139071543C= GRCh37
NC_000003.10:g.140554233C= NCBI36
NG_012174.1:g.13683C=

Transcript Alleles

HGVS Amino-acid Change
NM_020191.4:c.787C= MANE Select NP_064576.1:p.Arg263=
ENST00000680020.1:c.787C= MANE Select ENSP00000505414.1:p.Arg263=
NM_001363857.1:c.664C= NP_001350786.1:p.Arg222=
NM_001363893.1:c.784C= NP_001350822.1:p.Arg262=
NM_020191.2:c.787C= NP_064576.1:p.Arg263=
NM_020191.3:c.787C= NP_064576.1:p.Arg263=
ENST00000310776.8:c.787C= ENSP00000310785.4:p.Arg263=
ENST00000310776.9:c.784C= ENSP00000310785.5:p.Arg262=
ENST00000465056.5:c.784C= ENSP00000418233.1:p.Arg262=
ENST00000478464.5:c.664C= ENSP00000419303.1:p.Arg222=
ENST00000478464.6:c.577C= ENSP00000419303.2:p.Arg193=
ENST00000480644.1:c.272C=
ENST00000480644.2:c.703C= ENSP00000420229.2:p.Arg235=
ENST00000480938.5:n.1441C=
ENST00000492644.1:n.1832C=
ENST00000492644.2:n.3041C=
ENST00000495075.5:c.787C= ENSP00000418008.1:p.Arg263=
ENST00000498505.5:c.*384C= ENSP00000420482.1:n.*384C=
ENST00000684961.1:c.406C= ENSP00000508439.1:p.Arg136=
ENST00000686433.1:c.733C= ENSP00000509173.1:p.Arg245=
ENST00000687538.1:c.577C= ENSP00000508887.1:p.Arg193=
ENST00000688697.1:c.787C= ENSP00000510396.1:p.Arg263=
ENST00000689286.1:c.577C= ENSP00000509897.1:p.Arg193=
ENST00000689925.1:c.*128C= ENSP00000510082.1:n.*128C=
ENST00000690298.1:c.*428C= ENSP00000509376.1:n.*428C=
ENST00000691070.1:c.703C= ENSP00000509723.1:p.Arg235=
ENST00000692727.1:n.3309C=
ENST00000693155.1:n.1464C=
XM_005247640.2:c.784C= XP_005247697.1:p.Arg262=
XM_006713703.2:c.733C= XP_006713766.1:p.Arg245=
XM_006713703.4:c.733C= XP_006713766.1:p.Arg245=
XM_011512995.1:c.664C= XP_011511297.1:p.Arg222=
XM_011512996.1:c.661C= XP_011511298.1:p.Arg221=
XM_011512996.2:c.661C= XP_011511298.1:p.Arg221=