Canonical Allele Identifier: CA435884621
Gene: MRPS22 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.139071530A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139352688A>G , CM000665.2:g.139352688A>G GRCh38
NC_000003.11:g.139071530A>G , CM000665.1:g.139071530A>G GRCh37
NC_000003.10:g.140554220A>G NCBI36
NG_012174.1:g.13670A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478464.6:c.564A>G ENSP00000419303.2:p.Lys188=
ENST00000480644.2:c.690A>G ENSP00000420229.2:p.Lys230=
ENST00000492644.2:n.3028A>G
ENST00000684961.1:c.393A>G ENSP00000508439.1:p.Lys131=
ENST00000686433.1:c.720A>G ENSP00000509173.1:p.Lys240=
ENST00000687538.1:c.564A>G ENSP00000508887.1:p.Lys188=
ENST00000688697.1:c.774A>G ENSP00000510396.1:p.Lys258=
ENST00000689286.1:c.564A>G ENSP00000509897.1:p.Lys188=
ENST00000689925.1:c.*115A>G ENSP00000510082.1:n.*115A>G
ENST00000690298.1:c.*415A>G ENSP00000509376.1:n.*415A>G
ENST00000691070.1:c.690A>G ENSP00000509723.1:p.Lys230=
ENST00000692727.1:n.3296A>G
ENST00000693155.1:n.1451A>G
ENST00000310776.9:c.771A>G ENSP00000310785.5:p.Lys257=
ENST00000680020.1:c.774A>G MANE Select ENSP00000505414.1:p.Lys258=
ENST00000310776.8:c.774A>G ENSP00000310785.4:p.Lys258=
ENST00000465056.5:c.771A>G ENSP00000418233.1:p.Lys257=
ENST00000478464.5:c.651A>G ENSP00000419303.1:p.Lys217=
ENST00000480644.1:c.259A>G
ENST00000480938.5:n.1428A>G
ENST00000492644.1:n.1819A>G
ENST00000495075.5:c.774A>G ENSP00000418008.1:p.Lys258=
ENST00000498505.5:c.*371A>G ENSP00000420482.1:n.*371A>G
NM_020191.2:c.774A>G NP_064576.1:p.Lys258=
XM_005247640.2:c.771A>G XP_005247697.1:p.Lys257=
XM_006713703.2:c.720A>G XP_006713766.1:p.Lys240=
XM_011512995.1:c.651A>G XP_011511297.1:p.Lys217=
XM_011512996.1:c.648A>G XP_011511298.1:p.Lys216=
NM_001363857.1:c.651A>G NP_001350786.1:p.Lys217=
NM_001363893.1:c.771A>G NP_001350822.1:p.Lys257=
NM_020191.3:c.774A>G NP_064576.1:p.Lys258=
XM_006713703.4:c.720A>G XP_006713766.1:p.Lys240=
XM_011512996.2:c.648A>G XP_011511298.1:p.Lys216=
NM_020191.4:c.774A>G MANE Select NP_064576.1:p.Lys258=