Canonical Allele Identifier: CA414796626
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692895
ClinVar RCV Id: RCV000854229
dbSNP Id: rs1603221580
MyVariant Identifiers: chrMT:g.8548T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8548T>C , J01415.2:m.8548T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.183T>C (MT-ATP8) ENSP00000355265.1:p.Leu61=
ENST00000361899.2:c.22T>C (MT-ATP6) ENSP00000354632.2:p.Ser8Pro
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