Canonical Allele Identifier: CA120631
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9701
ClinVar RCV Id: RCV000010343 RCV000010344
dbSNP Id: rs267606896
MyVariant Identifiers: chrMT:g.13084A>T (hg38)
ERepo: CA120631/MONDO:0044970/014
PubMed: PMID:12796552
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13084A>T , J01415.2:m.13084A>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.748A>T ENSP00000354813.2:p.Ser250Cys
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