Canonical Allele Identifier: CA192745613
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657891C>T
GRCh37 chr9:g.35657888C>T
gnomAD v3:
9:35657891 C / T
gnomAD v4:
chr9-35657891-C-T
Joint Max Group AF 0.00001389 (AFR)
Genomes Max Group AF 0.00001913 (AFR)
Exomes Max Group AF 0.00000954 (AMR)
ClinVar RCV:
RCV001378692
RCV002493919
ClinVar Variation:
1067429
dbSNP:
74810894
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657891C>T , CM000671.2:g.35657891C>T GRCh38
NC_000009.11:g.35657888C>T , CM000671.1:g.35657888C>T GRCh37
NC_000009.10:g.35647888C>T NCBI36
NG_017041.1:g.5128G>A , LRG_163:g.5128G>A
NG_033120.1:g.4602C>T

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.128G>A , LRG_163t1:n.128G>A
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