Canonical Allele Identifier: CA354758194

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139065737G>T (hg19) ; chr3:g.139346895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346895G>T , CM000665.2:g.139346895G>T	GRCh38
NC_000003.11:g.139065737G>T , CM000665.1:g.139065737G>T	GRCh37
NC_000003.10:g.140548427G>T	NCBI36
NG_012174.1:g.7877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.-21G>T	ENSP00000419303.2:n.-21G>T
ENST00000480644.2:c.190G>T	ENSP00000420229.2:p.Glu64Ter
ENST00000492644.2:n.204G>T
ENST00000684961.1:c.-42-1265G>T	ENSP00000508439.1:n.-42-1265G>T
ENST00000686433.1:c.190G>T	ENSP00000509173.1:p.Glu64Ter
ENST00000687538.1:c.-21G>T	ENSP00000508887.1:n.-21G>T
ENST00000688697.1:c.190G>T	ENSP00000510396.1:p.Glu64Ter
ENST00000689286.1:c.-21G>T	ENSP00000509897.1:n.-21G>T
ENST00000689925.1:c.-21G>T	ENSP00000510082.1:n.-21G>T
ENST00000690298.1:c.173-1265G>T	ENSP00000509376.1:n.173-1265G>T
ENST00000691070.1:c.190G>T	ENSP00000509723.1:p.Glu64Ter
ENST00000692727.1:n.204G>T
ENST00000693155.1:n.213G>T
ENST00000310776.9:c.187G>T	ENSP00000310785.5:p.Glu63Ter
ENST00000680020.1:c.190G>T MANE Select	ENSP00000505414.1:p.Glu64Ter
ENST00000310776.8:c.190G>T	ENSP00000310785.4:p.Glu64Ter
ENST00000465056.5:c.187G>T	ENSP00000418233.1:p.Glu63Ter
ENST00000465373.5:c.205G>T	ENSP00000419920.1:p.Glu69Ter
ENST00000466690.5:c.176G>T
ENST00000478464.5:c.67G>T	ENSP00000419303.1:p.Glu23Ter
ENST00000480938.5:n.190G>T
ENST00000486705.1:n.101G>T
ENST00000495075.5:c.190G>T	ENSP00000418008.1:p.Glu64Ter
ENST00000495225.1:c.100G>T	ENSP00000417104.1:p.Glu34Ter
ENST00000498505.5:c.187G>T	ENSP00000420482.1:p.Glu63Ter
NM_020191.2:c.190G>T	NP_064576.1:p.Glu64Ter
XM_005247640.2:c.187G>T	XP_005247697.1:p.Glu63Ter
XM_006713703.2:c.190G>T	XP_006713766.1:p.Glu64Ter
XM_011512995.1:c.67G>T	XP_011511297.1:p.Glu23Ter
XM_011512996.1:c.64G>T	XP_011511298.1:p.Glu22Ter
NM_001363857.1:c.67G>T	NP_001350786.1:p.Glu23Ter
NM_001363893.1:c.187G>T	NP_001350822.1:p.Glu63Ter
NM_020191.3:c.190G>T	NP_064576.1:p.Glu64Ter
XM_006713703.4:c.190G>T	XP_006713766.1:p.Glu64Ter
XM_011512996.2:c.64G>T	XP_011511298.1:p.Glu22Ter
NM_020191.4:c.190G>T MANE Select	NP_064576.1:p.Glu64Ter