Canonical Allele Identifier: CA192745713
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657991C>T
GRCh37 chr9:g.35657988C>T
gnomAD v2:
9:35657988 C / T
gnomAD v3:
9:35657991 C / T
gnomAD v4:
chr9-35657991-C-T
Joint Max Group AF 0.0000058 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV001315308
ClinVar Variation:
1016318
dbSNP:
748623920
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657991C>T , CM000671.2:g.35657991C>T GRCh38
NC_000009.11:g.35657988C>T , CM000671.1:g.35657988C>T GRCh37
NC_000009.10:g.35647988C>T NCBI36
NG_017041.1:g.5028G>A , LRG_163:g.5028G>A
NG_033120.1:g.4702C>T

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.28G>A , LRG_163t1:n.28G>A
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