Canonical Allele Identifier: CA2640675

Gene: MRPS22

Linked Data

• dbSNP Id: rs762827746
• ExAC: 3:139065828 C / G
• gnomAD v2: 3-139065828-C-G
• gnomAD v3: 3-139346986-C-G
• gnomAD v4: 3-139346986-C-G
• MyVariant Identifiers: chr3:g.139065828C>G (hg19) ; chr3:g.139346986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346986C>G , CM000665.2:g.139346986C>G	GRCh38
NC_000003.11:g.139065828C>G , CM000665.1:g.139065828C>G	GRCh37
NC_000003.10:g.140548518C>G	NCBI36
NG_012174.1:g.7968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.71C>G	ENSP00000419303.2:p.Ala24Gly
ENST00000480644.2:c.281C>G	ENSP00000420229.2:p.Ala94Gly
ENST00000492644.2:n.295C>G
ENST00000684961.1:c.-42-1174C>G	ENSP00000508439.1:n.-42-1174C>G
ENST00000686433.1:c.281C>G	ENSP00000509173.1:p.Ala94Gly
ENST00000687538.1:c.71C>G	ENSP00000508887.1:p.Ala24Gly
ENST00000688697.1:c.281C>G	ENSP00000510396.1:p.Ala94Gly
ENST00000689286.1:c.71C>G	ENSP00000509897.1:p.Ala24Gly
ENST00000689925.1:c.71C>G	ENSP00000510082.1:p.Ala24Gly
ENST00000690298.1:c.173-1174C>G	ENSP00000509376.1:n.173-1174C>G
ENST00000691070.1:c.281C>G	ENSP00000509723.1:p.Ala94Gly
ENST00000692727.1:n.295C>G
ENST00000693155.1:n.304C>G
ENST00000310776.9:c.278C>G	ENSP00000310785.5:p.Ala93Gly
ENST00000680020.1:c.281C>G MANE Select	ENSP00000505414.1:p.Ala94Gly
ENST00000310776.8:c.281C>G	ENSP00000310785.4:p.Ala94Gly
ENST00000465056.5:c.278C>G	ENSP00000418233.1:p.Ala93Gly
ENST00000465373.5:c.296C>G	ENSP00000419920.1:p.Ala99Gly
ENST00000466690.5:c.267C>G
ENST00000478464.5:c.158C>G	ENSP00000419303.1:p.Ala53Gly
ENST00000480938.5:n.281C>G
ENST00000483545.1:n.21C>G
ENST00000486705.1:n.192C>G
ENST00000495075.5:c.281C>G	ENSP00000418008.1:p.Ala94Gly
ENST00000498505.5:c.278C>G	ENSP00000420482.1:p.Ala93Gly
NM_020191.2:c.281C>G	NP_064576.1:p.Ala94Gly
XM_005247640.2:c.278C>G	XP_005247697.1:p.Ala93Gly
XM_006713703.2:c.281C>G	XP_006713766.1:p.Ala94Gly
XM_011512995.1:c.158C>G	XP_011511297.1:p.Ala53Gly
XM_011512996.1:c.155C>G	XP_011511298.1:p.Ala52Gly
NM_001363857.1:c.158C>G	NP_001350786.1:p.Ala53Gly
NM_001363893.1:c.278C>G	NP_001350822.1:p.Ala93Gly
NM_020191.3:c.281C>G	NP_064576.1:p.Ala94Gly
XM_006713703.4:c.281C>G	XP_006713766.1:p.Ala94Gly
XM_011512996.2:c.155C>G	XP_011511298.1:p.Ala52Gly
NM_020191.4:c.281C>G MANE Select	NP_064576.1:p.Ala94Gly