Canonical Allele Identifier: CA464450698

Gene: RMRP

Linked Data

• ClinVar Variation Id: 426728
• ClinVar RCV Id: RCV000490106 ; RCV000670275
• dbSNP Id: rs1085307765
• gnomAD v4: 9-35657871-G-A
• MyVariant Identifiers: chr9:g.35657868G>A (hg19) ; chr9:g.35657871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657871G>A , CM000671.2:g.35657871G>A	GRCh38
NC_000009.11:g.35657868G>A , CM000671.1:g.35657868G>A	GRCh37
NC_000009.10:g.35647868G>A	NCBI36
NG_017041.1:g.5148C>T , LRG_163:g.5148C>T
NG_033120.1:g.4582G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.148C>T , LRG_163t1:n.148C>T