ClinGen Allele Registry
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Canonical Allele Identifier:
CA3128070
Gene: TRIM61
HGNC
NCBI
FAM218A
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.164957183A>G
GRCh37
chr4:g.165878335A>G
Revel Score:
ENST00000513876
0.074
Linked Data - Sequence & Population
gnomAD v2:
4:165878335 A / G
gnomAD v3:
4:164957183 A / G
gnomAD v4:
chr4-164957183-A-G
Joint Max Group AF
0.59162695 (EAS)
Genomes Max Group AF
0.59410015 (EAS)
Exomes Max Group AF
0.58940039 (EAS)
Linked Data - NCBI & NCI
dbSNP:
3733418
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.164957183A>G , CM000666.2:g.164957183A>G
GRCh38
NC_000004.11:g.165878335A>G , CM000666.1:g.165878335A>G
GRCh37
NC_000004.10:g.166097785A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000329314.6:c.526-2087T>C
(TRIM61)
ENSP00000332288.5:n.526-2087T>C
ENST00000329314.5:c.526-2087T>C
(TRIM61)
ENSP00000332288.5:n.526-2087T>C
ENST00000513876.3:c.161A>G
(FAM218A)
ENSP00000427428.1:p.His54Arg
ENST00000616332.1:c.526-2087T>C
(TRIM61)
ENSP00000482389.1:n.526-2087T>C
NM_001012414.2:c.526-2087T>C
(TRIM61)
NP_001012414.1:n.526-2087T>C
NM_153027.1:c.161A>G
(FAM218A)
NP_694572.1:p.His54Arg
NM_153027.2:c.161A>G
(FAM218A)
NP_694572.1:p.His54Arg
NM_001012414.3:c.526-2087T>C
(TRIM61)
NP_001012414.1:n.526-2087T>C
NR_160935.1:n.236A>G
(FAM218A)
Search 100 bp 5'
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