Canonical Allele Identifier: CA354763058

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139071536C>G (hg19) ; chr3:g.139352694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352694C>G , CM000665.2:g.139352694C>G	GRCh38
NC_000003.11:g.139071536C>G , CM000665.1:g.139071536C>G	GRCh37
NC_000003.10:g.140554226C>G	NCBI36
NG_012174.1:g.13676C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.570C>G	ENSP00000419303.2:p.Asp190Glu
ENST00000480644.2:c.696C>G	ENSP00000420229.2:p.Asp232Glu
ENST00000492644.2:n.3034C>G
ENST00000684961.1:c.399C>G	ENSP00000508439.1:p.Asp133Glu
ENST00000686433.1:c.726C>G	ENSP00000509173.1:p.Asp242Glu
ENST00000687538.1:c.570C>G	ENSP00000508887.1:p.Asp190Glu
ENST00000688697.1:c.780C>G	ENSP00000510396.1:p.Asp260Glu
ENST00000689286.1:c.570C>G	ENSP00000509897.1:p.Asp190Glu
ENST00000689925.1:c.*121C>G	ENSP00000510082.1:n.*121C>G
ENST00000690298.1:c.*421C>G	ENSP00000509376.1:n.*421C>G
ENST00000691070.1:c.696C>G	ENSP00000509723.1:p.Asp232Glu
ENST00000692727.1:n.3302C>G
ENST00000693155.1:n.1457C>G
ENST00000310776.9:c.777C>G	ENSP00000310785.5:p.Asp259Glu
ENST00000680020.1:c.780C>G MANE Select	ENSP00000505414.1:p.Asp260Glu
ENST00000310776.8:c.780C>G	ENSP00000310785.4:p.Asp260Glu
ENST00000465056.5:c.777C>G	ENSP00000418233.1:p.Asp259Glu
ENST00000478464.5:c.657C>G	ENSP00000419303.1:p.Asp219Glu
ENST00000480644.1:c.265C>G
ENST00000480938.5:n.1434C>G
ENST00000492644.1:n.1825C>G
ENST00000495075.5:c.780C>G	ENSP00000418008.1:p.Asp260Glu
ENST00000498505.5:c.*377C>G	ENSP00000420482.1:n.*377C>G
NM_020191.2:c.780C>G	NP_064576.1:p.Asp260Glu
XM_005247640.2:c.777C>G	XP_005247697.1:p.Asp259Glu
XM_006713703.2:c.726C>G	XP_006713766.1:p.Asp242Glu
XM_011512995.1:c.657C>G	XP_011511297.1:p.Asp219Glu
XM_011512996.1:c.654C>G	XP_011511298.1:p.Asp218Glu
NM_001363857.1:c.657C>G	NP_001350786.1:p.Asp219Glu
NM_001363893.1:c.777C>G	NP_001350822.1:p.Asp259Glu
NM_020191.3:c.780C>G	NP_064576.1:p.Asp260Glu
XM_006713703.4:c.726C>G	XP_006713766.1:p.Asp242Glu
XM_011512996.2:c.654C>G	XP_011511298.1:p.Asp218Glu
NM_020191.4:c.780C>G MANE Select	NP_064576.1:p.Asp260Glu