Canonical Allele Identifier: CA16618856

Gene: RMRP

Linked Data

• ClinVar Variation Id: 418696
• ClinVar RCV Id: RCV000487375 ; RCV001844172 ; RCV001851143 ; RCV000669352
• dbSNP Id: rs1064793373
• gnomAD v2: 9-35657965-G-A
• gnomAD v3: 9-35657968-G-A
• gnomAD v4: 9-35657968-G-A
• MyVariant Identifiers: chr9:g.35657965G>A (hg19) ; chr9:g.35657965_35657969delinsAGAAC (hg19) ; chr9:g.35657968G>A (hg38) ; chr9:g.35657968_35657972delinsAGAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657968G>A , CM000671.2:g.35657968G>A	GRCh38
NC_000009.11:g.35657965G>A , CM000671.1:g.35657965G>A	GRCh37
NC_000009.10:g.35647965G>A	NCBI36
NG_017041.1:g.5051C>T , LRG_163:g.5051C>T
NG_033120.1:g.4679G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.51C>T , LRG_163t1:n.51C>T