Canonical Allele Identifier: CA257181
Gene: RMRP HGNC NCBI

Linked Data

ClinVar Variation Id: 14209
dbSNP Id: rs727502774
gnomAD v2: 9-35657753-C-A
gnomAD v3: 9-35657756-C-A
gnomAD v4: 9-35657756-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657756C>A , CM000671.2:g.35657756C>A GRCh38
NC_000009.11:g.35657753C>A , CM000671.1:g.35657753C>A GRCh37
NC_000009.10:g.35647753C>A NCBI36
NG_017041.1:g.5263G>T , LRG_163:g.5263G>T
NG_033120.1:g.4467C>A

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.263G>T , LRG_163t1:n.263G>T