Canonical Allele Identifier: CA414813456
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693454
ClinVar RCV Id: RCV000854825
dbSNP Id: rs28397767
MyVariant Identifiers: chrMT:g.12501G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12501G>C , J01415.2:m.12501G>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.165G>C ENSP00000354813.2:p.Met55Ile
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