Canonical Allele Identifier: CA292139

Gene: MRPS22

Linked Data

• ClinVar Variation Id: 138250
• ClinVar RCV Id: RCV003925252
• dbSNP Id: rs11556243
• ExAC: 3:139065748 A / G
• gnomAD v2: 3-139065748-A-G
• gnomAD v3: 3-139346906-A-G
• gnomAD v4: 3-139346906-A-G
• MyVariant Identifiers: chr3:g.139065748A>G (hg19) ; chr3:g.139346906A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346906A>G , CM000665.2:g.139346906A>G	GRCh38
NC_000003.11:g.139065748A>G , CM000665.1:g.139065748A>G	GRCh37
NC_000003.10:g.140548438A>G	NCBI36
NG_012174.1:g.7888A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.-10A>G	ENSP00000419303.2:n.-10A>G
ENST00000480644.2:c.201A>G	ENSP00000420229.2:p.Lys67=
ENST00000492644.2:n.215A>G
ENST00000684961.1:c.-42-1254A>G	ENSP00000508439.1:n.-42-1254A>G
ENST00000686433.1:c.201A>G	ENSP00000509173.1:p.Lys67=
ENST00000687538.1:c.-10A>G	ENSP00000508887.1:n.-10A>G
ENST00000688697.1:c.201A>G	ENSP00000510396.1:p.Lys67=
ENST00000689286.1:c.-10A>G	ENSP00000509897.1:n.-10A>G
ENST00000689925.1:c.-10A>G	ENSP00000510082.1:n.-10A>G
ENST00000690298.1:c.173-1254A>G	ENSP00000509376.1:n.173-1254A>G
ENST00000691070.1:c.201A>G	ENSP00000509723.1:p.Lys67=
ENST00000692727.1:n.215A>G
ENST00000693155.1:n.224A>G
ENST00000310776.9:c.198A>G	ENSP00000310785.5:p.Lys66=
ENST00000680020.1:c.201A>G MANE Select	ENSP00000505414.1:p.Lys67=
ENST00000310776.8:c.201A>G	ENSP00000310785.4:p.Lys67=
ENST00000465056.5:c.198A>G	ENSP00000418233.1:p.Lys66=
ENST00000465373.5:c.216A>G	ENSP00000419920.1:p.Lys72=
ENST00000466690.5:c.187A>G
ENST00000478464.5:c.78A>G	ENSP00000419303.1:p.Lys26=
ENST00000480938.5:n.201A>G
ENST00000486705.1:n.112A>G
ENST00000495075.5:c.201A>G	ENSP00000418008.1:p.Lys67=
ENST00000495225.1:c.111A>G	ENSP00000417104.1:p.Lys37=
ENST00000498505.5:c.198A>G	ENSP00000420482.1:p.Lys66=
NM_020191.2:c.201A>G	NP_064576.1:p.Lys67=
XM_005247640.2:c.198A>G	XP_005247697.1:p.Lys66=
XM_006713703.2:c.201A>G	XP_006713766.1:p.Lys67=
XM_011512995.1:c.78A>G	XP_011511297.1:p.Lys26=
XM_011512996.1:c.75A>G	XP_011511298.1:p.Lys25=
NM_001363857.1:c.78A>G	NP_001350786.1:p.Lys26=
NM_001363893.1:c.198A>G	NP_001350822.1:p.Lys66=
NM_020191.3:c.201A>G	NP_064576.1:p.Lys67=
XM_006713703.4:c.201A>G	XP_006713766.1:p.Lys67=
XM_011512996.2:c.75A>G	XP_011511298.1:p.Lys25=
NM_020191.4:c.201A>G MANE Select	NP_064576.1:p.Lys67=