Canonical Allele Identifier: CA354760878

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139069031T>A (hg19) ; chr3:g.139350189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139350189T>A , CM000665.2:g.139350189T>A	GRCh38
NC_000003.11:g.139069031T>A , CM000665.1:g.139069031T>A	GRCh37
NC_000003.10:g.140551721T>A	NCBI36
NG_012174.1:g.11171T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.305T>A	ENSP00000419303.2:p.Ile102Asn
ENST00000480644.2:c.515T>A	ENSP00000420229.2:p.Ile172Asn
ENST00000492644.2:n.529T>A
ENST00000684961.1:c.134T>A	ENSP00000508439.1:p.Ile45Asn
ENST00000686433.1:c.515T>A	ENSP00000509173.1:p.Ile172Asn
ENST00000687538.1:c.305T>A	ENSP00000508887.1:p.Ile102Asn
ENST00000688697.1:c.515T>A	ENSP00000510396.1:p.Ile172Asn
ENST00000689286.1:c.305T>A	ENSP00000509897.1:p.Ile102Asn
ENST00000689925.1:c.305T>A	ENSP00000510082.1:p.Ile102Asn
ENST00000690298.1:c.*156T>A	ENSP00000509376.1:n.*156T>A
ENST00000691070.1:c.515T>A	ENSP00000509723.1:p.Ile172Asn
ENST00000692727.1:n.2383T>A
ENST00000693155.1:n.538T>A
ENST00000310776.9:c.512T>A	ENSP00000310785.5:p.Ile171Asn
ENST00000680020.1:c.515T>A MANE Select	ENSP00000505414.1:p.Ile172Asn
ENST00000310776.8:c.515T>A	ENSP00000310785.4:p.Ile172Asn
ENST00000465056.5:c.512T>A	ENSP00000418233.1:p.Ile171Asn
ENST00000465373.5:c.530T>A	ENSP00000419920.1:p.Ile177Asn
ENST00000466690.5:c.608T>A
ENST00000478464.5:c.392T>A	ENSP00000419303.1:p.Ile131Asn
ENST00000480644.1:c.54T>A
ENST00000480938.5:n.515T>A
ENST00000483545.1:n.255T>A
ENST00000495075.5:c.515T>A	ENSP00000418008.1:p.Ile172Asn
ENST00000498505.5:c.*112T>A	ENSP00000420482.1:n.*112T>A
NM_020191.2:c.515T>A	NP_064576.1:p.Ile172Asn
XM_005247640.2:c.512T>A	XP_005247697.1:p.Ile171Asn
XM_006713703.2:c.515T>A	XP_006713766.1:p.Ile172Asn
XM_011512995.1:c.392T>A	XP_011511297.1:p.Ile131Asn
XM_011512996.1:c.389T>A	XP_011511298.1:p.Ile130Asn
NM_001363857.1:c.392T>A	NP_001350786.1:p.Ile131Asn
NM_001363893.1:c.512T>A	NP_001350822.1:p.Ile171Asn
NM_020191.3:c.515T>A	NP_064576.1:p.Ile172Asn
XM_006713703.4:c.515T>A	XP_006713766.1:p.Ile172Asn
XM_011512996.2:c.389T>A	XP_011511298.1:p.Ile130Asn
NM_020191.4:c.515T>A MANE Select	NP_064576.1:p.Ile172Asn