Canonical Allele Identifier: CA435884603
Gene: MRPS22 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.139071527A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139352685A>C , CM000665.2:g.139352685A>C GRCh38
NC_000003.11:g.139071527A>C , CM000665.1:g.139071527A>C GRCh37
NC_000003.10:g.140554217A>C NCBI36
NG_012174.1:g.13667A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478464.6:c.561A>C ENSP00000419303.2:p.Gly187=
ENST00000480644.2:c.687A>C ENSP00000420229.2:p.Gly229=
ENST00000492644.2:n.3025A>C
ENST00000684961.1:c.390A>C ENSP00000508439.1:p.Gly130=
ENST00000686433.1:c.717A>C ENSP00000509173.1:p.Gly239=
ENST00000687538.1:c.561A>C ENSP00000508887.1:p.Gly187=
ENST00000688697.1:c.771A>C ENSP00000510396.1:p.Gly257=
ENST00000689286.1:c.561A>C ENSP00000509897.1:p.Gly187=
ENST00000689925.1:c.*112A>C ENSP00000510082.1:n.*112A>C
ENST00000690298.1:c.*412A>C ENSP00000509376.1:n.*412A>C
ENST00000691070.1:c.687A>C ENSP00000509723.1:p.Gly229=
ENST00000692727.1:n.3293A>C
ENST00000693155.1:n.1448A>C
ENST00000310776.9:c.768A>C ENSP00000310785.5:p.Gly256=
ENST00000680020.1:c.771A>C MANE Select ENSP00000505414.1:p.Gly257=
ENST00000310776.8:c.771A>C ENSP00000310785.4:p.Gly257=
ENST00000465056.5:c.768A>C ENSP00000418233.1:p.Gly256=
ENST00000478464.5:c.648A>C ENSP00000419303.1:p.Gly216=
ENST00000480644.1:c.256A>C
ENST00000480938.5:n.1425A>C
ENST00000492644.1:n.1816A>C
ENST00000495075.5:c.771A>C ENSP00000418008.1:p.Gly257=
ENST00000498505.5:c.*368A>C ENSP00000420482.1:n.*368A>C
NM_020191.2:c.771A>C NP_064576.1:p.Gly257=
XM_005247640.2:c.768A>C XP_005247697.1:p.Gly256=
XM_006713703.2:c.717A>C XP_006713766.1:p.Gly239=
XM_011512995.1:c.648A>C XP_011511297.1:p.Gly216=
XM_011512996.1:c.645A>C XP_011511298.1:p.Gly215=
NM_001363857.1:c.648A>C NP_001350786.1:p.Gly216=
NM_001363893.1:c.768A>C NP_001350822.1:p.Gly256=
NM_020191.3:c.771A>C NP_064576.1:p.Gly257=
XM_006713703.4:c.717A>C XP_006713766.1:p.Gly239=
XM_011512996.2:c.645A>C XP_011511298.1:p.Gly215=
NM_020191.4:c.771A>C MANE Select NP_064576.1:p.Gly257=