Canonical Allele Identifier: CA5045839

Gene: RMRP

Linked Data

• ClinVar Variation Id: 465201
• ClinVar RCV Id: RCV000535218 ; RCV001726225 ; RCV001824821 ; RCV001271383 ; RCV002060322 ; RCV003409793
• dbSNP Id: rs74810894
• ExAC: 9:35657888 C / G
• gnomAD v2: 9-35657888-C-G
• gnomAD v3: 9-35657891-C-G
• gnomAD v4: 9-35657891-C-G
• MyVariant Identifiers: chr9:g.35657888C>G (hg19) ; chr9:g.35657891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657891C>G , CM000671.2:g.35657891C>G	GRCh38
NC_000009.11:g.35657888C>G , CM000671.1:g.35657888C>G	GRCh37
NC_000009.10:g.35647888C>G	NCBI36
NG_017041.1:g.5128G>C , LRG_163:g.5128G>C
NG_033120.1:g.4602C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.128G>C , LRG_163t1:n.128G>C