Canonical Allele Identifier: CA354763010

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139071532A>T (hg19) ; chr3:g.139352690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352690A>T , CM000665.2:g.139352690A>T	GRCh38
NC_000003.11:g.139071532A>T , CM000665.1:g.139071532A>T	GRCh37
NC_000003.10:g.140554222A>T	NCBI36
NG_012174.1:g.13672A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.566A>T	ENSP00000419303.2:p.Tyr189Phe
ENST00000480644.2:c.692A>T	ENSP00000420229.2:p.Tyr231Phe
ENST00000492644.2:n.3030A>T
ENST00000684961.1:c.395A>T	ENSP00000508439.1:p.Tyr132Phe
ENST00000686433.1:c.722A>T	ENSP00000509173.1:p.Tyr241Phe
ENST00000687538.1:c.566A>T	ENSP00000508887.1:p.Tyr189Phe
ENST00000688697.1:c.776A>T	ENSP00000510396.1:p.Tyr259Phe
ENST00000689286.1:c.566A>T	ENSP00000509897.1:p.Tyr189Phe
ENST00000689925.1:c.*117A>T	ENSP00000510082.1:n.*117A>T
ENST00000690298.1:c.*417A>T	ENSP00000509376.1:n.*417A>T
ENST00000691070.1:c.692A>T	ENSP00000509723.1:p.Tyr231Phe
ENST00000692727.1:n.3298A>T
ENST00000693155.1:n.1453A>T
ENST00000310776.9:c.773A>T	ENSP00000310785.5:p.Tyr258Phe
ENST00000680020.1:c.776A>T MANE Select	ENSP00000505414.1:p.Tyr259Phe
ENST00000310776.8:c.776A>T	ENSP00000310785.4:p.Tyr259Phe
ENST00000465056.5:c.773A>T	ENSP00000418233.1:p.Tyr258Phe
ENST00000478464.5:c.653A>T	ENSP00000419303.1:p.Tyr218Phe
ENST00000480644.1:c.261A>T
ENST00000480938.5:n.1430A>T
ENST00000492644.1:n.1821A>T
ENST00000495075.5:c.776A>T	ENSP00000418008.1:p.Tyr259Phe
ENST00000498505.5:c.*373A>T	ENSP00000420482.1:n.*373A>T
NM_020191.2:c.776A>T	NP_064576.1:p.Tyr259Phe
XM_005247640.2:c.773A>T	XP_005247697.1:p.Tyr258Phe
XM_006713703.2:c.722A>T	XP_006713766.1:p.Tyr241Phe
XM_011512995.1:c.653A>T	XP_011511297.1:p.Tyr218Phe
XM_011512996.1:c.650A>T	XP_011511298.1:p.Tyr217Phe
NM_001363857.1:c.653A>T	NP_001350786.1:p.Tyr218Phe
NM_001363893.1:c.773A>T	NP_001350822.1:p.Tyr258Phe
NM_020191.3:c.776A>T	NP_064576.1:p.Tyr259Phe
XM_006713703.4:c.722A>T	XP_006713766.1:p.Tyr241Phe
XM_011512996.2:c.650A>T	XP_011511298.1:p.Tyr217Phe
NM_020191.4:c.776A>T MANE Select	NP_064576.1:p.Tyr259Phe