Canonical Allele Identifier: CA2640630

Gene: MRPS22

Linked Data

• ClinVar Variation Id: 343484
• ClinVar RCV Id: RCV000304954
• dbSNP Id: rs374112977
• ExAC: 3:139063051 T / C
• gnomAD v2: 3-139063051-T-C
• gnomAD v3: 3-139344209-T-C
• gnomAD v4: 3-139344209-T-C
• MyVariant Identifiers: chr3:g.139063051T>C (hg19) ; chr3:g.139344209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139344209T>C , CM000665.2:g.139344209T>C	GRCh38
NC_000003.11:g.139063051T>C , CM000665.1:g.139063051T>C	GRCh37
NC_000003.10:g.140545741T>C	NCBI36
NG_012174.1:g.5191T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480644.2:c.172+11T>C	ENSP00000420229.2:n.172+11T>C
ENST00000492644.2:n.186+11T>C
ENST00000684961.1:c.-42-3951T>C	ENSP00000508439.1:n.-42-3951T>C
ENST00000686433.1:c.172+11T>C	ENSP00000509173.1:n.172+11T>C
ENST00000687538.1:c.-38-2669T>C	ENSP00000508887.1:n.-38-2669T>C
ENST00000688697.1:c.172+11T>C	ENSP00000510396.1:n.172+11T>C
ENST00000690298.1:c.172+11T>C	ENSP00000509376.1:n.172+11T>C
ENST00000691070.1:c.172+11T>C	ENSP00000509723.1:n.172+11T>C
ENST00000692727.1:n.186+11T>C
ENST00000693155.1:n.195+11T>C
ENST00000310776.9:c.172+11T>C	ENSP00000310785.5:n.172+11T>C
ENST00000680020.1:c.172+11T>C MANE Select	ENSP00000505414.1:n.172+11T>C
ENST00000310776.8:c.172+11T>C	ENSP00000310785.4:n.172+11T>C
ENST00000465056.5:c.172+11T>C	ENSP00000418233.1:n.172+11T>C
ENST00000465373.5:c.160+11T>C	ENSP00000419920.1:n.160+11T>C
ENST00000466690.5:c.158+11T>C
ENST00000480938.5:n.172+11T>C
ENST00000486705.1:n.83+11T>C
ENST00000495075.5:c.172+11T>C	ENSP00000418008.1:n.172+11T>C
ENST00000495225.1:c.83-2669T>C	ENSP00000417104.1:n.83-2669T>C
ENST00000498505.5:c.172+11T>C	ENSP00000420482.1:n.172+11T>C
NM_020191.2:c.172+11T>C	NP_064576.1:n.172+11T>C
XM_005247640.2:c.172+11T>C	XP_005247697.1:n.172+11T>C
XM_006713703.2:c.172+11T>C	XP_006713766.1:n.172+11T>C
NM_001363893.1:c.172+11T>C	NP_001350822.1:n.172+11T>C
NM_020191.3:c.172+11T>C	NP_064576.1:n.172+11T>C
XM_006713703.4:c.172+11T>C	XP_006713766.1:n.172+11T>C
NM_020191.4:c.172+11T>C MANE Select	NP_064576.1:n.172+11T>C