Canonical Allele Identifier: CA414814709
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693481
ClinVar RCV Id: RCV000854853
dbSNP Id: rs1603223892
MyVariant Identifiers: chrMT:g.12757T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12757T>C , J01415.2:m.12757T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.421T>C ENSP00000354813.2:p.Phe141Leu
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