Canonical Allele Identifier: CA120633
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9703
ClinVar RCV Id: RCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592
dbSNP Id: rs267606898
COSMIC: COSM5652748
MyVariant Identifiers: chrMT:g.13042G>A (hg38)
PubMed: PMID:15767514 PMID:17400793
ERepo: CA120633/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13042G>A , J01415.2:m.13042G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.706G>A ENSP00000354813.2:p.Ala236Thr
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