Canonical Allele Identifier: CA354758345

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139065767G>C (hg19) ; chr3:g.139346925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346925G>C , CM000665.2:g.139346925G>C	GRCh38
NC_000003.11:g.139065767G>C , CM000665.1:g.139065767G>C	GRCh37
NC_000003.10:g.140548457G>C	NCBI36
NG_012174.1:g.7907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.10G>C	ENSP00000419303.2:p.Glu4Gln
ENST00000480644.2:c.220G>C	ENSP00000420229.2:p.Glu74Gln
ENST00000492644.2:n.234G>C
ENST00000684961.1:c.-42-1235G>C	ENSP00000508439.1:n.-42-1235G>C
ENST00000686433.1:c.220G>C	ENSP00000509173.1:p.Glu74Gln
ENST00000687538.1:c.10G>C	ENSP00000508887.1:p.Glu4Gln
ENST00000688697.1:c.220G>C	ENSP00000510396.1:p.Glu74Gln
ENST00000689286.1:c.10G>C	ENSP00000509897.1:p.Glu4Gln
ENST00000689925.1:c.10G>C	ENSP00000510082.1:p.Glu4Gln
ENST00000690298.1:c.173-1235G>C	ENSP00000509376.1:n.173-1235G>C
ENST00000691070.1:c.220G>C	ENSP00000509723.1:p.Glu74Gln
ENST00000692727.1:n.234G>C
ENST00000693155.1:n.243G>C
ENST00000310776.9:c.217G>C	ENSP00000310785.5:p.Glu73Gln
ENST00000680020.1:c.220G>C MANE Select	ENSP00000505414.1:p.Glu74Gln
ENST00000310776.8:c.220G>C	ENSP00000310785.4:p.Glu74Gln
ENST00000465056.5:c.217G>C	ENSP00000418233.1:p.Glu73Gln
ENST00000465373.5:c.235G>C	ENSP00000419920.1:p.Glu79Gln
ENST00000466690.5:c.206G>C
ENST00000478464.5:c.97G>C	ENSP00000419303.1:p.Glu33Gln
ENST00000480938.5:n.220G>C
ENST00000486705.1:n.131G>C
ENST00000495075.5:c.220G>C	ENSP00000418008.1:p.Glu74Gln
ENST00000495225.1:c.130G>C	ENSP00000417104.1:p.Glu44Gln
ENST00000498505.5:c.217G>C	ENSP00000420482.1:p.Glu73Gln
NM_020191.2:c.220G>C	NP_064576.1:p.Glu74Gln
XM_005247640.2:c.217G>C	XP_005247697.1:p.Glu73Gln
XM_006713703.2:c.220G>C	XP_006713766.1:p.Glu74Gln
XM_011512995.1:c.97G>C	XP_011511297.1:p.Glu33Gln
XM_011512996.1:c.94G>C	XP_011511298.1:p.Glu32Gln
NM_001363857.1:c.97G>C	NP_001350786.1:p.Glu33Gln
NM_001363893.1:c.217G>C	NP_001350822.1:p.Glu73Gln
NM_020191.3:c.220G>C	NP_064576.1:p.Glu74Gln
XM_006713703.4:c.220G>C	XP_006713766.1:p.Glu74Gln
XM_011512996.2:c.94G>C	XP_011511298.1:p.Glu32Gln
NM_020191.4:c.220G>C MANE Select	NP_064576.1:p.Glu74Gln