Canonical Allele Identifier: CA354763034

Gene: MRPS22

Linked Data

• gnomAD v4: 3-139352692-G-A
• MyVariant Identifiers: chr3:g.139071534G>A (hg19) ; chr3:g.139352692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352692G>A , CM000665.2:g.139352692G>A	GRCh38
NC_000003.11:g.139071534G>A , CM000665.1:g.139071534G>A	GRCh37
NC_000003.10:g.140554224G>A	NCBI36
NG_012174.1:g.13674G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.568G>A	ENSP00000419303.2:p.Asp190Asn
ENST00000480644.2:c.694G>A	ENSP00000420229.2:p.Asp232Asn
ENST00000492644.2:n.3032G>A
ENST00000684961.1:c.397G>A	ENSP00000508439.1:p.Asp133Asn
ENST00000686433.1:c.724G>A	ENSP00000509173.1:p.Asp242Asn
ENST00000687538.1:c.568G>A	ENSP00000508887.1:p.Asp190Asn
ENST00000688697.1:c.778G>A	ENSP00000510396.1:p.Asp260Asn
ENST00000689286.1:c.568G>A	ENSP00000509897.1:p.Asp190Asn
ENST00000689925.1:c.*119G>A	ENSP00000510082.1:n.*119G>A
ENST00000690298.1:c.*419G>A	ENSP00000509376.1:n.*419G>A
ENST00000691070.1:c.694G>A	ENSP00000509723.1:p.Asp232Asn
ENST00000692727.1:n.3300G>A
ENST00000693155.1:n.1455G>A
ENST00000310776.9:c.775G>A	ENSP00000310785.5:p.Asp259Asn
ENST00000680020.1:c.778G>A MANE Select	ENSP00000505414.1:p.Asp260Asn
ENST00000310776.8:c.778G>A	ENSP00000310785.4:p.Asp260Asn
ENST00000465056.5:c.775G>A	ENSP00000418233.1:p.Asp259Asn
ENST00000478464.5:c.655G>A	ENSP00000419303.1:p.Asp219Asn
ENST00000480644.1:c.263G>A
ENST00000480938.5:n.1432G>A
ENST00000492644.1:n.1823G>A
ENST00000495075.5:c.778G>A	ENSP00000418008.1:p.Asp260Asn
ENST00000498505.5:c.*375G>A	ENSP00000420482.1:n.*375G>A
NM_020191.2:c.778G>A	NP_064576.1:p.Asp260Asn
XM_005247640.2:c.775G>A	XP_005247697.1:p.Asp259Asn
XM_006713703.2:c.724G>A	XP_006713766.1:p.Asp242Asn
XM_011512995.1:c.655G>A	XP_011511297.1:p.Asp219Asn
XM_011512996.1:c.652G>A	XP_011511298.1:p.Asp218Asn
NM_001363857.1:c.655G>A	NP_001350786.1:p.Asp219Asn
NM_001363893.1:c.775G>A	NP_001350822.1:p.Asp259Asn
NM_020191.3:c.778G>A	NP_064576.1:p.Asp260Asn
XM_006713703.4:c.724G>A	XP_006713766.1:p.Asp242Asn
XM_011512996.2:c.652G>A	XP_011511298.1:p.Asp218Asn
NM_020191.4:c.778G>A MANE Select	NP_064576.1:p.Asp260Asn