Canonical Allele Identifier: CA354763050

Gene: MRPS22

Linked Data

• gnomAD v4: 3-139352693-A-C
• MyVariant Identifiers: chr3:g.139071535A>C (hg19) ; chr3:g.139352693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352693A>C , CM000665.2:g.139352693A>C	GRCh38
NC_000003.11:g.139071535A>C , CM000665.1:g.139071535A>C	GRCh37
NC_000003.10:g.140554225A>C	NCBI36
NG_012174.1:g.13675A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.569A>C	ENSP00000419303.2:p.Asp190Ala
ENST00000480644.2:c.695A>C	ENSP00000420229.2:p.Asp232Ala
ENST00000492644.2:n.3033A>C
ENST00000684961.1:c.398A>C	ENSP00000508439.1:p.Asp133Ala
ENST00000686433.1:c.725A>C	ENSP00000509173.1:p.Asp242Ala
ENST00000687538.1:c.569A>C	ENSP00000508887.1:p.Asp190Ala
ENST00000688697.1:c.779A>C	ENSP00000510396.1:p.Asp260Ala
ENST00000689286.1:c.569A>C	ENSP00000509897.1:p.Asp190Ala
ENST00000689925.1:c.*120A>C	ENSP00000510082.1:n.*120A>C
ENST00000690298.1:c.*420A>C	ENSP00000509376.1:n.*420A>C
ENST00000691070.1:c.695A>C	ENSP00000509723.1:p.Asp232Ala
ENST00000692727.1:n.3301A>C
ENST00000693155.1:n.1456A>C
ENST00000310776.9:c.776A>C	ENSP00000310785.5:p.Asp259Ala
ENST00000680020.1:c.779A>C MANE Select	ENSP00000505414.1:p.Asp260Ala
ENST00000310776.8:c.779A>C	ENSP00000310785.4:p.Asp260Ala
ENST00000465056.5:c.776A>C	ENSP00000418233.1:p.Asp259Ala
ENST00000478464.5:c.656A>C	ENSP00000419303.1:p.Asp219Ala
ENST00000480644.1:c.264A>C
ENST00000480938.5:n.1433A>C
ENST00000492644.1:n.1824A>C
ENST00000495075.5:c.779A>C	ENSP00000418008.1:p.Asp260Ala
ENST00000498505.5:c.*376A>C	ENSP00000420482.1:n.*376A>C
NM_020191.2:c.779A>C	NP_064576.1:p.Asp260Ala
XM_005247640.2:c.776A>C	XP_005247697.1:p.Asp259Ala
XM_006713703.2:c.725A>C	XP_006713766.1:p.Asp242Ala
XM_011512995.1:c.656A>C	XP_011511297.1:p.Asp219Ala
XM_011512996.1:c.653A>C	XP_011511298.1:p.Asp218Ala
NM_001363857.1:c.656A>C	NP_001350786.1:p.Asp219Ala
NM_001363893.1:c.776A>C	NP_001350822.1:p.Asp259Ala
NM_020191.3:c.779A>C	NP_064576.1:p.Asp260Ala
XM_006713703.4:c.725A>C	XP_006713766.1:p.Asp242Ala
XM_011512996.2:c.653A>C	XP_011511298.1:p.Asp218Ala
NM_020191.4:c.779A>C MANE Select	NP_064576.1:p.Asp260Ala