Canonical Allele Identifier: CA1054148003

Gene: MRPS22

Linked Data

• dbSNP Id: rs1941116896
• gnomAD v3: 3-139350120-C-T
• gnomAD v4: 3-139350120-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139350120C>T , CM000665.2:g.139350120C>T	GRCh38
NC_000003.11:g.139068962C>T , CM000665.1:g.139068962C>T	GRCh37
NC_000003.10:g.140551652C>T	NCBI36
NG_012174.1:g.11102C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.295-59C>T	ENSP00000419303.2:n.295-59C>T
ENST00000480644.2:c.505-59C>T	ENSP00000420229.2:n.505-59C>T
ENST00000492644.2:n.519-59C>T
ENST00000684961.1:c.124-59C>T	ENSP00000508439.1:n.124-59C>T
ENST00000686433.1:c.505-59C>T	ENSP00000509173.1:n.505-59C>T
ENST00000687538.1:c.295-59C>T	ENSP00000508887.1:n.295-59C>T
ENST00000688697.1:c.505-59C>T	ENSP00000510396.1:n.505-59C>T
ENST00000689286.1:c.295-59C>T	ENSP00000509897.1:n.295-59C>T
ENST00000689925.1:c.295-59C>T	ENSP00000510082.1:n.295-59C>T
ENST00000690298.1:c.*146-59C>T	ENSP00000509376.1:n.*146-59C>T
ENST00000691070.1:c.505-59C>T	ENSP00000509723.1:n.505-59C>T
ENST00000692727.1:n.2314C>T
ENST00000693155.1:n.528-59C>T
ENST00000310776.9:c.502-59C>T	ENSP00000310785.5:n.502-59C>T
ENST00000680020.1:c.505-59C>T MANE Select	ENSP00000505414.1:n.505-59C>T
ENST00000310776.8:c.505-59C>T	ENSP00000310785.4:n.505-59C>T
ENST00000465056.5:c.502-59C>T	ENSP00000418233.1:n.502-59C>T
ENST00000465373.5:c.520-59C>T	ENSP00000419920.1:n.520-59C>T
ENST00000466690.5:c.598-59C>T
ENST00000478464.5:c.382-59C>T	ENSP00000419303.1:n.382-59C>T
ENST00000480644.1:c.44-59C>T
ENST00000480938.5:n.505-59C>T
ENST00000483545.1:n.245-59C>T
ENST00000495075.5:c.505-59C>T	ENSP00000418008.1:n.505-59C>T
ENST00000498505.5:c.*102-59C>T	ENSP00000420482.1:n.*102-59C>T
NM_020191.2:c.505-59C>T	NP_064576.1:n.505-59C>T
XM_005247640.2:c.502-59C>T	XP_005247697.1:n.502-59C>T
XM_006713703.2:c.505-59C>T	XP_006713766.1:n.505-59C>T
XM_011512995.1:c.382-59C>T	XP_011511297.1:n.382-59C>T
XM_011512996.1:c.379-59C>T	XP_011511298.1:n.379-59C>T
NM_001363857.1:c.382-59C>T	NP_001350786.1:n.382-59C>T
NM_001363893.1:c.502-59C>T	NP_001350822.1:n.502-59C>T
NM_020191.3:c.505-59C>T	NP_064576.1:n.505-59C>T
XM_006713703.4:c.505-59C>T	XP_006713766.1:n.505-59C>T
XM_011512996.2:c.379-59C>T	XP_011511298.1:n.379-59C>T
NM_020191.4:c.505-59C>T MANE Select	NP_064576.1:n.505-59C>T