Canonical Allele Identifier: CA5045860

Gene: RMRP

Linked Data

• ClinVar Variation Id: 533768
• ClinVar RCV Id: RCV000641013 ; RCV000665904
• dbSNP Id: rs549085067
• ExAC: 9:35657980 G / T
• gnomAD v2: 9-35657980-G-T
• gnomAD v3: 9-35657983-G-T
• gnomAD v4: 9-35657983-G-T
• MyVariant Identifiers: chr9:g.35657980G>T (hg19) ; chr9:g.35657983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657983G>T , CM000671.2:g.35657983G>T	GRCh38
NC_000009.11:g.35657980G>T , CM000671.1:g.35657980G>T	GRCh37
NC_000009.10:g.35647980G>T	NCBI36
NG_017041.1:g.5036C>A , LRG_163:g.5036C>A
NG_033120.1:g.4694G>T

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.36C>A , LRG_163t1:n.36C>A