Canonical Allele Identifier: CA464450701
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657873G>C
GRCh37 chr9:g.35657870G>C
gnomAD v2:
9:35657870 G / C
gnomAD v4:
chr9-35657873-G-C
Joint Max Group AF 0.0000118 (SAS)
Exomes Max Group AF 0.0000127 (SAS)
ClinVar RCV:
RCV000821555
ClinVar Variation:
663639
dbSNP:
757576534
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657873G>C , CM000671.2:g.35657873G>C GRCh38
NC_000009.11:g.35657870G>C , CM000671.1:g.35657870G>C GRCh37
NC_000009.10:g.35647870G>C NCBI36
NG_017041.1:g.5146C>G , LRG_163:g.5146C>G
NG_033120.1:g.4584G>C

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.146C>G , LRG_163t1:n.146C>G
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