Canonical Allele Identifier: CA354763003

Gene: MRPS22

Linked Data

• dbSNP Id: rs1941174688
• gnomAD v4: 3-139352689-T-C
• MyVariant Identifiers: chr3:g.139071531T>C (hg19) ; chr3:g.139352689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352689T>C , CM000665.2:g.139352689T>C	GRCh38
NC_000003.11:g.139071531T>C , CM000665.1:g.139071531T>C	GRCh37
NC_000003.10:g.140554221T>C	NCBI36
NG_012174.1:g.13671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.565T>C	ENSP00000419303.2:p.Tyr189His
ENST00000480644.2:c.691T>C	ENSP00000420229.2:p.Tyr231His
ENST00000492644.2:n.3029T>C
ENST00000684961.1:c.394T>C	ENSP00000508439.1:p.Tyr132His
ENST00000686433.1:c.721T>C	ENSP00000509173.1:p.Tyr241His
ENST00000687538.1:c.565T>C	ENSP00000508887.1:p.Tyr189His
ENST00000688697.1:c.775T>C	ENSP00000510396.1:p.Tyr259His
ENST00000689286.1:c.565T>C	ENSP00000509897.1:p.Tyr189His
ENST00000689925.1:c.*116T>C	ENSP00000510082.1:n.*116T>C
ENST00000690298.1:c.*416T>C	ENSP00000509376.1:n.*416T>C
ENST00000691070.1:c.691T>C	ENSP00000509723.1:p.Tyr231His
ENST00000692727.1:n.3297T>C
ENST00000693155.1:n.1452T>C
ENST00000310776.9:c.772T>C	ENSP00000310785.5:p.Tyr258His
ENST00000680020.1:c.775T>C MANE Select	ENSP00000505414.1:p.Tyr259His
ENST00000310776.8:c.775T>C	ENSP00000310785.4:p.Tyr259His
ENST00000465056.5:c.772T>C	ENSP00000418233.1:p.Tyr258His
ENST00000478464.5:c.652T>C	ENSP00000419303.1:p.Tyr218His
ENST00000480644.1:c.260T>C
ENST00000480938.5:n.1429T>C
ENST00000492644.1:n.1820T>C
ENST00000495075.5:c.775T>C	ENSP00000418008.1:p.Tyr259His
ENST00000498505.5:c.*372T>C	ENSP00000420482.1:n.*372T>C
NM_020191.2:c.775T>C	NP_064576.1:p.Tyr259His
XM_005247640.2:c.772T>C	XP_005247697.1:p.Tyr258His
XM_006713703.2:c.721T>C	XP_006713766.1:p.Tyr241His
XM_011512995.1:c.652T>C	XP_011511297.1:p.Tyr218His
XM_011512996.1:c.649T>C	XP_011511298.1:p.Tyr217His
NM_001363857.1:c.652T>C	NP_001350786.1:p.Tyr218His
NM_001363893.1:c.772T>C	NP_001350822.1:p.Tyr258His
NM_020191.3:c.775T>C	NP_064576.1:p.Tyr259His
XM_006713703.4:c.721T>C	XP_006713766.1:p.Tyr241His
XM_011512996.2:c.649T>C	XP_011511298.1:p.Tyr217His
NM_020191.4:c.775T>C MANE Select	NP_064576.1:p.Tyr259His