Canonical Allele Identifier: CA5045836

Gene: RMRP

Linked Data

• ClinVar Variation Id: 383542
• ClinVar RCV Id: RCV000423534 ; RCV000667121 ; RCV000822579
• dbSNP Id: rs757576534
• ExAC: 9:35657870 G / A
• gnomAD v2: 9-35657870-G-A
• gnomAD v3: 9-35657873-G-A
• gnomAD v4: 9-35657873-G-A
• MyVariant Identifiers: chr9:g.35657870G>A (hg19) ; chr9:g.35657873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657873G>A , CM000671.2:g.35657873G>A	GRCh38
NC_000009.11:g.35657870G>A , CM000671.1:g.35657870G>A	GRCh37
NC_000009.10:g.35647870G>A	NCBI36
NG_017041.1:g.5146C>T , LRG_163:g.5146C>T
NG_033120.1:g.4584G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.146C>T , LRG_163t1:n.146C>T