Canonical Allele Identifier: CA2640809
Gene: MRPS22 HGNC NCBI

Linked Data

dbSNP Id: rs765934394

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139352687A>T , CM000665.2:g.139352687A>T GRCh38
NC_000003.11:g.139071529A>T , CM000665.1:g.139071529A>T GRCh37
NC_000003.10:g.140554219A>T NCBI36
NG_012174.1:g.13669A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478464.6:c.563A>T ENSP00000419303.2:p.Lys188Ile
ENST00000480644.2:c.689A>T ENSP00000420229.2:p.Lys230Ile
ENST00000492644.2:n.3027A>T
ENST00000684961.1:c.392A>T ENSP00000508439.1:p.Lys131Ile
ENST00000686433.1:c.719A>T ENSP00000509173.1:p.Lys240Ile
ENST00000687538.1:c.563A>T ENSP00000508887.1:p.Lys188Ile
ENST00000688697.1:c.773A>T ENSP00000510396.1:p.Lys258Ile
ENST00000689286.1:c.563A>T ENSP00000509897.1:p.Lys188Ile
ENST00000689925.1:c.*114A>T ENSP00000510082.1:n.*114A>T
ENST00000690298.1:c.*414A>T ENSP00000509376.1:n.*414A>T
ENST00000691070.1:c.689A>T ENSP00000509723.1:p.Lys230Ile
ENST00000692727.1:n.3295A>T
ENST00000693155.1:n.1450A>T
ENST00000310776.9:c.770A>T ENSP00000310785.5:p.Lys257Ile
ENST00000680020.1:c.773A>T MANE Select ENSP00000505414.1:p.Lys258Ile
ENST00000310776.8:c.773A>T ENSP00000310785.4:p.Lys258Ile
ENST00000465056.5:c.770A>T ENSP00000418233.1:p.Lys257Ile
ENST00000478464.5:c.650A>T ENSP00000419303.1:p.Lys217Ile
ENST00000480644.1:c.258A>T
ENST00000480938.5:n.1427A>T
ENST00000492644.1:n.1818A>T
ENST00000495075.5:c.773A>T ENSP00000418008.1:p.Lys258Ile
ENST00000498505.5:c.*370A>T ENSP00000420482.1:n.*370A>T
NM_020191.2:c.773A>T NP_064576.1:p.Lys258Ile
XM_005247640.2:c.770A>T XP_005247697.1:p.Lys257Ile
XM_006713703.2:c.719A>T XP_006713766.1:p.Lys240Ile
XM_011512995.1:c.650A>T XP_011511297.1:p.Lys217Ile
XM_011512996.1:c.647A>T XP_011511298.1:p.Lys216Ile
NM_001363857.1:c.650A>T NP_001350786.1:p.Lys217Ile
NM_001363893.1:c.770A>T NP_001350822.1:p.Lys257Ile
NM_020191.3:c.773A>T NP_064576.1:p.Lys258Ile
XM_006713703.4:c.719A>T XP_006713766.1:p.Lys240Ile
XM_011512996.2:c.647A>T XP_011511298.1:p.Lys216Ile
NM_020191.4:c.773A>T MANE Select NP_064576.1:p.Lys258Ile