Canonical Allele Identifier: CA5045834
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657872C>G
GRCh37 chr9:g.35657869C>G
gnomAD v2:
9:35657869 C / G
gnomAD v4:
chr9-35657872-C-G
Joint Max Group AF 0.0000118 (SAS)
Exomes Max Group AF 0.0000127 (SAS)
ClinVar RCV:
RCV001210940
RCV001833849
ClinVar Variation:
941203
dbSNP:
753874439
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657872C>G , CM000671.2:g.35657872C>G GRCh38
NC_000009.11:g.35657869C>G , CM000671.1:g.35657869C>G GRCh37
NC_000009.10:g.35647869C>G NCBI36
NG_017041.1:g.5147G>C , LRG_163:g.5147G>C
NG_033120.1:g.4583C>G

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.147G>C , LRG_163t1:n.147G>C
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