Canonical Allele Identifier: CA5045835

Gene: RMRP

Linked Data

• ClinVar Variation Id: 379208
• ClinVar RCV Id: RCV000423744 ; RCV000549969 ; RCV000666251 ; RCV001563660 ; RCV002488899
• dbSNP Id: rs753874439
• ExAC: 9:35657869 C / T
• gnomAD v2: 9-35657869-C-T
• gnomAD v3: 9-35657872-C-T
• gnomAD v4: 9-35657872-C-T
• MyVariant Identifiers: chr9:g.35657869C>T (hg19) ; chr9:g.35657872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657872C>T , CM000671.2:g.35657872C>T	GRCh38
NC_000009.11:g.35657869C>T , CM000671.1:g.35657869C>T	GRCh37
NC_000009.10:g.35647869C>T	NCBI36
NG_017041.1:g.5147G>A , LRG_163:g.5147G>A
NG_033120.1:g.4583C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.147G>A , LRG_163t1:n.147G>A