Canonical Allele Identifier: CA5045860
Gene: RMRP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.35657983G>T
GRCh37 chr9:g.35657980G>T
gnomAD v2:
9:35657980 G / T
gnomAD v3:
9:35657983 G / T
gnomAD v4:
chr9-35657983-G-T
Joint Max Group AF 0.00019579 (SAS)
Exomes Max Group AF 0.00019817 (SAS)
ClinVar RCV:
RCV000641013
RCV000665904
ClinVar Variation:
533768
dbSNP:
549085067
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657983G>T , CM000671.2:g.35657983G>T GRCh38
NC_000009.11:g.35657980G>T , CM000671.1:g.35657980G>T GRCh37
NC_000009.10:g.35647980G>T NCBI36
NG_017041.1:g.5036C>A , LRG_163:g.5036C>A
NG_033120.1:g.4694G>T

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.36C>A , LRG_163t1:n.36C>A
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