Canonical Allele Identifier: CA354762983

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139071526G>A (hg19) ; chr3:g.139352684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352684G>A , CM000665.2:g.139352684G>A	GRCh38
NC_000003.11:g.139071526G>A , CM000665.1:g.139071526G>A	GRCh37
NC_000003.10:g.140554216G>A	NCBI36
NG_012174.1:g.13666G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.560G>A	ENSP00000419303.2:p.Gly187Glu
ENST00000480644.2:c.686G>A	ENSP00000420229.2:p.Gly229Glu
ENST00000492644.2:n.3024G>A
ENST00000684961.1:c.389G>A	ENSP00000508439.1:p.Gly130Glu
ENST00000686433.1:c.716G>A	ENSP00000509173.1:p.Gly239Glu
ENST00000687538.1:c.560G>A	ENSP00000508887.1:p.Gly187Glu
ENST00000688697.1:c.770G>A	ENSP00000510396.1:p.Gly257Glu
ENST00000689286.1:c.560G>A	ENSP00000509897.1:p.Gly187Glu
ENST00000689925.1:c.*111G>A	ENSP00000510082.1:n.*111G>A
ENST00000690298.1:c.*411G>A	ENSP00000509376.1:n.*411G>A
ENST00000691070.1:c.686G>A	ENSP00000509723.1:p.Gly229Glu
ENST00000692727.1:n.3292G>A
ENST00000693155.1:n.1447G>A
ENST00000310776.9:c.767G>A	ENSP00000310785.5:p.Gly256Glu
ENST00000680020.1:c.770G>A MANE Select	ENSP00000505414.1:p.Gly257Glu
ENST00000310776.8:c.770G>A	ENSP00000310785.4:p.Gly257Glu
ENST00000465056.5:c.767G>A	ENSP00000418233.1:p.Gly256Glu
ENST00000478464.5:c.647G>A	ENSP00000419303.1:p.Gly216Glu
ENST00000480644.1:c.255G>A
ENST00000480938.5:n.1424G>A
ENST00000492644.1:n.1815G>A
ENST00000495075.5:c.770G>A	ENSP00000418008.1:p.Gly257Glu
ENST00000498505.5:c.*367G>A	ENSP00000420482.1:n.*367G>A
NM_020191.2:c.770G>A	NP_064576.1:p.Gly257Glu
XM_005247640.2:c.767G>A	XP_005247697.1:p.Gly256Glu
XM_006713703.2:c.716G>A	XP_006713766.1:p.Gly239Glu
XM_011512995.1:c.647G>A	XP_011511297.1:p.Gly216Glu
XM_011512996.1:c.644G>A	XP_011511298.1:p.Gly215Glu
NM_001363857.1:c.647G>A	NP_001350786.1:p.Gly216Glu
NM_001363893.1:c.767G>A	NP_001350822.1:p.Gly256Glu
NM_020191.3:c.770G>A	NP_064576.1:p.Gly257Glu
XM_006713703.4:c.716G>A	XP_006713766.1:p.Gly239Glu
XM_011512996.2:c.644G>A	XP_011511298.1:p.Gly215Glu
NM_020191.4:c.770G>A MANE Select	NP_064576.1:p.Gly257Glu