Canonical Allele Identifier: CA464450136
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657757G>C
GRCh37 chr9:g.35657754G>C
gnomAD v2:
9:35657754 G / C
gnomAD v3:
9:35657757 G / C
gnomAD v4:
chr9-35657757-G-C
Joint Max Group AF 0.00000582 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
ClinVar RCV:
RCV000667280
RCV001294871
ClinVar Variation:
552081
dbSNP:
533294975
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657757G>C , CM000671.2:g.35657757G>C GRCh38
NC_000009.11:g.35657754G>C , CM000671.1:g.35657754G>C GRCh37
NC_000009.10:g.35647754G>C NCBI36
NG_017041.1:g.5262C>G , LRG_163:g.5262C>G
NG_033120.1:g.4468G>C

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.262C>G , LRG_163t1:n.262C>G
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