Canonical Allele Identifier: CA274361

Gene: RMRP

Linked Data

• ClinVar Variation Id: 189086
• ClinVar RCV Id: RCV000169492 ; RCV000763614 ; RCV000794299 ; RCV001725132
• dbSNP Id: rs786204684
• gnomAD v2: 9-35657952-G-A
• gnomAD v3: 9-35657955-G-A
• gnomAD v4: 9-35657955-G-A
• MyVariant Identifiers: chr9:g.35657952G>A (hg19) ; chr9:g.35657955G>A (hg38)
• PubMed: PMID:12107819 ; PMID:14569125 ; PMID:16244706 ; PMID:17189938 ; PMID:17701897

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657955G>A , CM000671.2:g.35657955G>A	GRCh38
NC_000009.11:g.35657952G>A , CM000671.1:g.35657952G>A	GRCh37
NC_000009.10:g.35647952G>A	NCBI36
NG_017041.1:g.5064C>T , LRG_163:g.5064C>T
NG_033120.1:g.4666G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.64C>T , LRG_163t1:n.64C>T