Canonical Allele Identifier: CA464451089
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh37 chr9:g.35658011G>C
gnomAD v3:
9:35658014 G / C
gnomAD v4:
chr9-35658014-G-C
Joint Max Group AF 0.00000348 (NFE)
Exomes Max Group AF 0.00000258 (NFE)
ClinVar RCV:
RCV004703004
ClinVar Variation:
3339262
dbSNP:
772443941
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35658014G>C , CM000671.2:g.35658014G>C GRCh38
NC_000009.11:g.35658011G>C , CM000671.1:g.35658011G>C GRCh37
NC_000009.10:g.35648011G>C NCBI36
NG_017041.1:g.5005C>G , LRG_163:g.5005C>G
NG_033120.1:g.4725G>C

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.5C>G , LRG_163t1:n.5C>G
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