Canonical Allele Identifier: CA464450496
Gene: RMRP HGNC NCBI
ClinVar RCV:
RCV002988779
ClinVar Variation:
2078709
dbSNP:
886041234
gnomAD v2:
9:35657801 T / A
gnomAD v3:
9:35657804 T / A
gnomAD v4:
chr9-35657804-T-A
Joint Max Group AF 0.00003158 (NFE)
Genomes Max Group AF 0.00004769 (NFE)
Exomes Max Group AF 0.00002119 (NFE)
MyVariant.info:
GRCh38 chr9:g.35657804T>A
GRCh37 chr9:g.35657801T>A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657804T>A , CM000671.2:g.35657804T>A GRCh38
NC_000009.11:g.35657801T>A , CM000671.1:g.35657801T>A GRCh37
NC_000009.10:g.35647801T>A NCBI36
NG_017041.1:g.5215A>T , LRG_163:g.5215A>T
NG_033120.1:g.4515T>A

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.215A>T , LRG_163t1:n.215A>T
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