ClinGen Allele Registry
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Canonical Allele Identifier:
CA344822
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65511
ClinVar RCV Id:
RCV000055699
RCV000854959
dbSNP Id:
rs200855215
MyVariant Identifiers:
chrMT:g.13637A>G (hg38)
PubMed:
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13637A>G , J01415.2:m.13637A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1301A>G
ENSP00000354813.2:p.Gln434Arg
Search 100 bp 5'
Search 100 bp 3'