Canonical Allele Identifier: CA354762975

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139071525G>T (hg19) ; chr3:g.139352683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352683G>T , CM000665.2:g.139352683G>T	GRCh38
NC_000003.11:g.139071525G>T , CM000665.1:g.139071525G>T	GRCh37
NC_000003.10:g.140554215G>T	NCBI36
NG_012174.1:g.13665G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.559G>T	ENSP00000419303.2:p.Gly187Ter
ENST00000480644.2:c.685G>T	ENSP00000420229.2:p.Gly229Ter
ENST00000492644.2:n.3023G>T
ENST00000684961.1:c.388G>T	ENSP00000508439.1:p.Gly130Ter
ENST00000686433.1:c.715G>T	ENSP00000509173.1:p.Gly239Ter
ENST00000687538.1:c.559G>T	ENSP00000508887.1:p.Gly187Ter
ENST00000688697.1:c.769G>T	ENSP00000510396.1:p.Gly257Ter
ENST00000689286.1:c.559G>T	ENSP00000509897.1:p.Gly187Ter
ENST00000689925.1:c.*110G>T	ENSP00000510082.1:n.*110G>T
ENST00000690298.1:c.*410G>T	ENSP00000509376.1:n.*410G>T
ENST00000691070.1:c.685G>T	ENSP00000509723.1:p.Gly229Ter
ENST00000692727.1:n.3291G>T
ENST00000693155.1:n.1446G>T
ENST00000310776.9:c.766G>T	ENSP00000310785.5:p.Gly256Ter
ENST00000680020.1:c.769G>T MANE Select	ENSP00000505414.1:p.Gly257Ter
ENST00000310776.8:c.769G>T	ENSP00000310785.4:p.Gly257Ter
ENST00000465056.5:c.766G>T	ENSP00000418233.1:p.Gly256Ter
ENST00000478464.5:c.646G>T	ENSP00000419303.1:p.Gly216Ter
ENST00000480644.1:c.254G>T
ENST00000480938.5:n.1423G>T
ENST00000492644.1:n.1814G>T
ENST00000495075.5:c.769G>T	ENSP00000418008.1:p.Gly257Ter
ENST00000498505.5:c.*366G>T	ENSP00000420482.1:n.*366G>T
NM_020191.2:c.769G>T	NP_064576.1:p.Gly257Ter
XM_005247640.2:c.766G>T	XP_005247697.1:p.Gly256Ter
XM_006713703.2:c.715G>T	XP_006713766.1:p.Gly239Ter
XM_011512995.1:c.646G>T	XP_011511297.1:p.Gly216Ter
XM_011512996.1:c.643G>T	XP_011511298.1:p.Gly215Ter
NM_001363857.1:c.646G>T	NP_001350786.1:p.Gly216Ter
NM_001363893.1:c.766G>T	NP_001350822.1:p.Gly256Ter
NM_020191.3:c.769G>T	NP_064576.1:p.Gly257Ter
XM_006713703.4:c.715G>T	XP_006713766.1:p.Gly239Ter
XM_011512996.2:c.643G>T	XP_011511298.1:p.Gly215Ter
NM_020191.4:c.769G>T MANE Select	NP_064576.1:p.Gly257Ter