Canonical Allele Identifier: CA2640610

Gene: MRPS22

Linked Data

• ClinVar Variation Id: 343483
• ClinVar RCV Id: RCV000268532 ; RCV000600779
• dbSNP Id: rs772766573
• ExAC: 3:139062958 G / A
• gnomAD v2: 3-139062958-G-A
• gnomAD v4: 3-139344116-G-A
• MyVariant Identifiers: chr3:g.139062958G>A (hg19) ; chr3:g.139344116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139344116G>A , CM000665.2:g.139344116G>A	GRCh38
NC_000003.11:g.139062958G>A , CM000665.1:g.139062958G>A	GRCh37
NC_000003.10:g.140545648G>A	NCBI36
NG_012174.1:g.5098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480644.2:c.90G>A	ENSP00000420229.2:p.Gln30=
ENST00000492644.2:n.104G>A
ENST00000684961.1:c.-42-4044G>A	ENSP00000508439.1:n.-42-4044G>A
ENST00000686433.1:c.90G>A	ENSP00000509173.1:p.Gln30=
ENST00000687538.1:c.-38-2762G>A	ENSP00000508887.1:n.-38-2762G>A
ENST00000688697.1:c.90G>A	ENSP00000510396.1:p.Gln30=
ENST00000690298.1:c.90G>A	ENSP00000509376.1:p.Gln30=
ENST00000691070.1:c.90G>A	ENSP00000509723.1:p.Gln30=
ENST00000692727.1:n.104G>A
ENST00000693155.1:n.113G>A
ENST00000310776.9:c.90G>A	ENSP00000310785.5:p.Gln30=
ENST00000680020.1:c.90G>A MANE Select	ENSP00000505414.1:p.Gln30=
ENST00000310776.8:c.90G>A	ENSP00000310785.4:p.Gln30=
ENST00000465056.5:c.90G>A	ENSP00000418233.1:p.Gln30=
ENST00000465373.5:c.78G>A	ENSP00000419920.1:p.Gln26=
ENST00000466690.5:c.76G>A
ENST00000480938.5:n.90G>A
ENST00000486705.1:n.1G>A
ENST00000495075.5:c.90G>A	ENSP00000418008.1:p.Gln30=
ENST00000495225.1:c.83-2762G>A	ENSP00000417104.1:n.83-2762G>A
ENST00000498505.5:c.90G>A	ENSP00000420482.1:p.Gln30=
NM_020191.2:c.90G>A	NP_064576.1:p.Gln30=
XM_005247640.2:c.90G>A	XP_005247697.1:p.Gln30=
XM_006713703.2:c.90G>A	XP_006713766.1:p.Gln30=
NM_001363893.1:c.90G>A	NP_001350822.1:p.Gln30=
NM_020191.3:c.90G>A	NP_064576.1:p.Gln30=
XM_006713703.4:c.90G>A	XP_006713766.1:p.Gln30=
NM_020191.4:c.90G>A MANE Select	NP_064576.1:p.Gln30=