Canonical Allele Identifier: CA13931720
Gene: MRPL52 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.22834885G>A
GRCh37 chr14:g.23304094G>A
gnomAD v2:
14:23304094 G / A
gnomAD v3:
14:22834885 G / A
gnomAD v4:
chr14-22834885-G-A
Joint Max Group AF 0.34494765 (EAS)
Genomes Max Group AF 0.34489145 (EAS)
Exomes Max Group AF 0.12134044 (NFE)
dbSNP:
3751488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22834885G>A , CM000676.2:g.22834885G>A GRCh38
NC_000014.8:g.23304094G>A , CM000676.1:g.23304094G>A GRCh37
NC_000014.7:g.22373934G>A NCBI36
NG_046989.1:g.3353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311892.10:c.*587G>A ENSP00000310762.6:n.*587G>A
ENST00000355151.9:c.*564G>A ENSP00000347277.5:n.*564G>A
ENST00000397496.7:c.*564G>A MANE Select ENSP00000380633.3:n.*564G>A
NM_178336.2:c.*564G>A NP_848026.1:n.*564G>A
NM_180982.2:c.*564G>A NP_851313.1:n.*564G>A
NM_181304.2:c.*564G>A NP_851821.1:n.*564G>A
NM_181305.2:c.*564G>A NP_851822.1:n.*564G>A
NM_181306.2:c.*564G>A NP_851823.1:n.*564G>A
NM_181307.2:c.*607G>A NP_851824.1:n.*607G>A
NM_001318870.1:c.*607G>A NP_001305799.1:n.*607G>A
NM_180982.3:c.*564G>A MANE Select NP_851313.1:n.*564G>A
NM_001318870.2:c.*607G>A NP_001305799.1:n.*607G>A
NM_178336.3:c.*564G>A NP_848026.1:n.*564G>A
NM_181304.3:c.*564G>A NP_851821.1:n.*564G>A
NM_181305.3:c.*564G>A NP_851822.1:n.*564G>A
NM_181306.3:c.*564G>A NP_851823.1:n.*564G>A
NM_181307.3:c.*607G>A NP_851824.1:n.*607G>A
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