Canonical Allele Identifier: CA2640681

Gene: MRPS22

Linked Data

• ClinVar Variation Id: 343485
• ClinVar RCV Id: RCV000265078 ; RCV000931370 ; RCV003932388
• dbSNP Id: rs138148950
• ExAC: 3:139065874 A / G
• gnomAD v2: 3-139065874-A-G
• gnomAD v3: 3-139347032-A-G
• gnomAD v4: 3-139347032-A-G
• MyVariant Identifiers: chr3:g.139065874A>G (hg19) ; chr3:g.139347032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139347032A>G , CM000665.2:g.139347032A>G	GRCh38
NC_000003.11:g.139065874A>G , CM000665.1:g.139065874A>G	GRCh37
NC_000003.10:g.140548564A>G	NCBI36
NG_012174.1:g.8014A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.117A>G	ENSP00000419303.2:p.Ala39=
ENST00000480644.2:c.327A>G	ENSP00000420229.2:p.Ala109=
ENST00000492644.2:n.341A>G
ENST00000684961.1:c.-42-1128A>G	ENSP00000508439.1:n.-42-1128A>G
ENST00000686433.1:c.327A>G	ENSP00000509173.1:p.Ala109=
ENST00000687538.1:c.117A>G	ENSP00000508887.1:p.Ala39=
ENST00000688697.1:c.327A>G	ENSP00000510396.1:p.Ala109=
ENST00000689286.1:c.117A>G	ENSP00000509897.1:p.Ala39=
ENST00000689925.1:c.117A>G	ENSP00000510082.1:p.Ala39=
ENST00000690298.1:c.173-1128A>G	ENSP00000509376.1:n.173-1128A>G
ENST00000691070.1:c.327A>G	ENSP00000509723.1:p.Ala109=
ENST00000692727.1:n.341A>G
ENST00000693155.1:n.350A>G
ENST00000310776.9:c.324A>G	ENSP00000310785.5:p.Ala108=
ENST00000680020.1:c.327A>G MANE Select	ENSP00000505414.1:p.Ala109=
ENST00000310776.8:c.327A>G	ENSP00000310785.4:p.Ala109=
ENST00000465056.5:c.324A>G	ENSP00000418233.1:p.Ala108=
ENST00000465373.5:c.342A>G	ENSP00000419920.1:p.Ala114=
ENST00000466690.5:c.313A>G
ENST00000478464.5:c.204A>G	ENSP00000419303.1:p.Ala68=
ENST00000480938.5:n.327A>G
ENST00000483545.1:n.67A>G
ENST00000486705.1:n.238A>G
ENST00000495075.5:c.327A>G	ENSP00000418008.1:p.Ala109=
ENST00000498505.5:c.324A>G	ENSP00000420482.1:p.Ala108=
NM_020191.2:c.327A>G	NP_064576.1:p.Ala109=
XM_005247640.2:c.324A>G	XP_005247697.1:p.Ala108=
XM_006713703.2:c.327A>G	XP_006713766.1:p.Ala109=
XM_011512995.1:c.204A>G	XP_011511297.1:p.Ala68=
XM_011512996.1:c.201A>G	XP_011511298.1:p.Ala67=
NM_001363857.1:c.204A>G	NP_001350786.1:p.Ala68=
NM_001363893.1:c.324A>G	NP_001350822.1:p.Ala108=
NM_020191.3:c.327A>G	NP_064576.1:p.Ala109=
XM_006713703.4:c.327A>G	XP_006713766.1:p.Ala109=
XM_011512996.2:c.201A>G	XP_011511298.1:p.Ala67=
NM_020191.4:c.327A>G MANE Select	NP_064576.1:p.Ala109=