Canonical Allele Identifier: CA464450698
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657871G>A
GRCh37 chr9:g.35657868G>A
gnomAD v4:
chr9-35657871-G-A
Joint Max Group AF 0.00000208 (NFE)
Exomes Max Group AF 0.00000252 (NFE)
ClinVar RCV:
RCV000490106
RCV000670275
ClinVar Variation:
426728
dbSNP:
1085307765
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657871G>A , CM000671.2:g.35657871G>A GRCh38
NC_000009.11:g.35657868G>A , CM000671.1:g.35657868G>A GRCh37
NC_000009.10:g.35647868G>A NCBI36
NG_017041.1:g.5148C>T , LRG_163:g.5148C>T
NG_033120.1:g.4582G>A

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.148C>T , LRG_163t1:n.148C>T
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