Canonical Allele Identifier: CA120632
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9702
ClinVar RCV Id: RCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941
dbSNP Id: rs267606897
MyVariant Identifiers: chrMT:g.13513G>A (hg38)
ERepo: CA120632/MONDO:0044970/014
PubMed: PMID:9299505 PMID:10589546 PMID:12624137 PMID:14520659 PMID:14730434 PMID:15576045 PMID:16306525 PMID:17400793 PMID:18332249 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13513G>A , J01415.2:m.13513G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1177G>A ENSP00000354813.2:p.Asp393Asn
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