Canonical Allele Identifier: CA192745729
Gene: RMRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1683417
ClinVar RCV Id: RCV002238692
dbSNP Id: rs748814304
gnomAD v2: 9-35658006-A-G
gnomAD v4: 9-35658009-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35658009A>G , CM000671.2:g.35658009A>G GRCh38
NC_000009.11:g.35658006A>G , CM000671.1:g.35658006A>G GRCh37
NC_000009.10:g.35648006A>G NCBI36
NG_017041.1:g.5010T>C , LRG_163:g.5010T>C
NG_033120.1:g.4720A>G

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.10T>C , LRG_163t1:n.10T>C