Canonical Allele Identifier: CA354760896

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139069036G>T (hg19) ; chr3:g.139350194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139350194G>T , CM000665.2:g.139350194G>T	GRCh38
NC_000003.11:g.139069036G>T , CM000665.1:g.139069036G>T	GRCh37
NC_000003.10:g.140551726G>T	NCBI36
NG_012174.1:g.11176G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.310G>T	ENSP00000419303.2:p.Val104Phe
ENST00000480644.2:c.520G>T	ENSP00000420229.2:p.Val174Phe
ENST00000492644.2:n.534G>T
ENST00000684961.1:c.139G>T	ENSP00000508439.1:p.Val47Phe
ENST00000686433.1:c.520G>T	ENSP00000509173.1:p.Val174Phe
ENST00000687538.1:c.310G>T	ENSP00000508887.1:p.Val104Phe
ENST00000688697.1:c.520G>T	ENSP00000510396.1:p.Val174Phe
ENST00000689286.1:c.310G>T	ENSP00000509897.1:p.Val104Phe
ENST00000689925.1:c.310G>T	ENSP00000510082.1:p.Val104Phe
ENST00000690298.1:c.*161G>T	ENSP00000509376.1:n.*161G>T
ENST00000691070.1:c.520G>T	ENSP00000509723.1:p.Val174Phe
ENST00000692727.1:n.2388G>T
ENST00000693155.1:n.543G>T
ENST00000310776.9:c.517G>T	ENSP00000310785.5:p.Val173Phe
ENST00000680020.1:c.520G>T MANE Select	ENSP00000505414.1:p.Val174Phe
ENST00000310776.8:c.520G>T	ENSP00000310785.4:p.Val174Phe
ENST00000465056.5:c.517G>T	ENSP00000418233.1:p.Val173Phe
ENST00000465373.5:c.535G>T	ENSP00000419920.1:p.Val179Phe
ENST00000466690.5:c.613G>T
ENST00000478464.5:c.397G>T	ENSP00000419303.1:p.Val133Phe
ENST00000480644.1:c.59G>T
ENST00000480938.5:n.520G>T
ENST00000483545.1:n.260G>T
ENST00000495075.5:c.520G>T	ENSP00000418008.1:p.Val174Phe
ENST00000498505.5:c.*117G>T	ENSP00000420482.1:n.*117G>T
NM_020191.2:c.520G>T	NP_064576.1:p.Val174Phe
XM_005247640.2:c.517G>T	XP_005247697.1:p.Val173Phe
XM_006713703.2:c.520G>T	XP_006713766.1:p.Val174Phe
XM_011512995.1:c.397G>T	XP_011511297.1:p.Val133Phe
XM_011512996.1:c.394G>T	XP_011511298.1:p.Val132Phe
NM_001363857.1:c.397G>T	NP_001350786.1:p.Val133Phe
NM_001363893.1:c.517G>T	NP_001350822.1:p.Val173Phe
NM_020191.3:c.520G>T	NP_064576.1:p.Val174Phe
XM_006713703.4:c.520G>T	XP_006713766.1:p.Val174Phe
XM_011512996.2:c.394G>T	XP_011511298.1:p.Val132Phe
NM_020191.4:c.520G>T MANE Select	NP_064576.1:p.Val174Phe