Canonical Allele Identifier: CA464450288
Gene: RMRP HGNC NCBI

Linked Data

ClinVar Variation Id: 553173
ClinVar RCV Id: RCV002532075
dbSNP Id: rs551450545
gnomAD v4: 9-35657776-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657776T>G , CM000671.2:g.35657776T>G GRCh38
NC_000009.11:g.35657773T>G , CM000671.1:g.35657773T>G GRCh37
NC_000009.10:g.35647773T>G NCBI36
NG_017041.1:g.5243A>C , LRG_163:g.5243A>C
NG_033120.1:g.4487T>G

Transcript Alleles

HGVS Amino-acid change
NR_003051.3:n.243A>C , LRG_163t1:n.243A>C