Canonical Allele Identifier: CA354758816

Gene: MRPS22

Linked Data

• dbSNP Id: rs1426196814
• gnomAD v2: 3-139065834-A-G
• gnomAD v4: 3-139346992-A-G
• MyVariant Identifiers: chr3:g.139065834A>G (hg19) ; chr3:g.139346992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346992A>G , CM000665.2:g.139346992A>G	GRCh38
NC_000003.11:g.139065834A>G , CM000665.1:g.139065834A>G	GRCh37
NC_000003.10:g.140548524A>G	NCBI36
NG_012174.1:g.7974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.77A>G	ENSP00000419303.2:p.Gln26Arg
ENST00000480644.2:c.287A>G	ENSP00000420229.2:p.Gln96Arg
ENST00000492644.2:n.301A>G
ENST00000684961.1:c.-42-1168A>G	ENSP00000508439.1:n.-42-1168A>G
ENST00000686433.1:c.287A>G	ENSP00000509173.1:p.Gln96Arg
ENST00000687538.1:c.77A>G	ENSP00000508887.1:p.Gln26Arg
ENST00000688697.1:c.287A>G	ENSP00000510396.1:p.Gln96Arg
ENST00000689286.1:c.77A>G	ENSP00000509897.1:p.Gln26Arg
ENST00000689925.1:c.77A>G	ENSP00000510082.1:p.Gln26Arg
ENST00000690298.1:c.173-1168A>G	ENSP00000509376.1:n.173-1168A>G
ENST00000691070.1:c.287A>G	ENSP00000509723.1:p.Gln96Arg
ENST00000692727.1:n.301A>G
ENST00000693155.1:n.310A>G
ENST00000310776.9:c.284A>G	ENSP00000310785.5:p.Gln95Arg
ENST00000680020.1:c.287A>G MANE Select	ENSP00000505414.1:p.Gln96Arg
ENST00000310776.8:c.287A>G	ENSP00000310785.4:p.Gln96Arg
ENST00000465056.5:c.284A>G	ENSP00000418233.1:p.Gln95Arg
ENST00000465373.5:c.302A>G	ENSP00000419920.1:p.Gln101Arg
ENST00000466690.5:c.273A>G
ENST00000478464.5:c.164A>G	ENSP00000419303.1:p.Gln55Arg
ENST00000480938.5:n.287A>G
ENST00000483545.1:n.27A>G
ENST00000486705.1:n.198A>G
ENST00000495075.5:c.287A>G	ENSP00000418008.1:p.Gln96Arg
ENST00000498505.5:c.284A>G	ENSP00000420482.1:p.Gln95Arg
NM_020191.2:c.287A>G	NP_064576.1:p.Gln96Arg
XM_005247640.2:c.284A>G	XP_005247697.1:p.Gln95Arg
XM_006713703.2:c.287A>G	XP_006713766.1:p.Gln96Arg
XM_011512995.1:c.164A>G	XP_011511297.1:p.Gln55Arg
XM_011512996.1:c.161A>G	XP_011511298.1:p.Gln54Arg
NM_001363857.1:c.164A>G	NP_001350786.1:p.Gln55Arg
NM_001363893.1:c.284A>G	NP_001350822.1:p.Gln95Arg
NM_020191.3:c.287A>G	NP_064576.1:p.Gln96Arg
XM_006713703.4:c.287A>G	XP_006713766.1:p.Gln96Arg
XM_011512996.2:c.161A>G	XP_011511298.1:p.Gln54Arg
NM_020191.4:c.287A>G MANE Select	NP_064576.1:p.Gln96Arg