Canonical Allele Identifier: CA192745540
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657776T>C
GRCh37 chr9:g.35657773T>C
gnomAD v2:
9:35657773 T / C
gnomAD v3:
9:35657776 T / C
gnomAD v4:
chr9-35657776-T-C
Joint Max Group AF 0.0001067 (NFE)
Genomes Max Group AF 0.00007908 (NFE)
Exomes Max Group AF 0.00010116 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657776T>C , CM000671.2:g.35657776T>C GRCh38
NC_000009.11:g.35657773T>C , CM000671.1:g.35657773T>C GRCh37
NC_000009.10:g.35647773T>C NCBI36
NG_017041.1:g.5243A>G , LRG_163:g.5243A>G
NG_033120.1:g.4487T>C

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.243A>G , LRG_163t1:n.243A>G
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