Canonical Allele Identifier: CA192745540

Gene: RMRP

Linked Data

• ClinVar Variation Id: 487451
• ClinVar RCV Id: RCV000576821 ; RCV000816222 ; RCV002497220
• dbSNP Id: rs551450545
• gnomAD v2: 9-35657773-T-C
• gnomAD v3: 9-35657776-T-C
• gnomAD v4: 9-35657776-T-C
• MyVariant Identifiers: chr9:g.35657773T>C (hg19) ; chr9:g.35657776T>C (hg38)
• PubMed: PMID:12107819 ; PMID:16244706 ; PMID:18804272 ; PMID:25663137

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657776T>C , CM000671.2:g.35657776T>C	GRCh38
NC_000009.11:g.35657773T>C , CM000671.1:g.35657773T>C	GRCh37
NC_000009.10:g.35647773T>C	NCBI36
NG_017041.1:g.5243A>G , LRG_163:g.5243A>G
NG_033120.1:g.4487T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.243A>G , LRG_163t1:n.243A>G