Canonical Allele Identifier: CA257180
Gene: RMRP HGNC NCBI

Linked Data

ClinVar Variation Id: 14208
ClinVar RCV Id: RCV000015275 RCV000015276 RCV000313899 RCV000555900 RCV000763613 RCV003944823
dbSNP Id: rs199476103
ExAC: 9:35657945 T / C
gnomAD v2: 9-35657945-T-C
gnomAD v3: 9-35657948-T-C
gnomAD v4: 9-35657948-T-C
MyVariant Identifiers: chr9:g.35657945T>C (hg19) chr9:g.35657948T>C (hg38)
PubMed: PMID:9156319 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16838329 PMID:17701897 PMID:22420014
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657948T>C , CM000671.2:g.35657948T>C GRCh38
NC_000009.11:g.35657945T>C , CM000671.1:g.35657945T>C GRCh37
NC_000009.10:g.35647945T>C NCBI36
NG_017041.1:g.5071A>G , LRG_163:g.5071A>G
NG_033120.1:g.4659T>C

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.71A>G , LRG_163t1:n.71A>G
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