Canonical Allele Identifier: CA414796619
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692894
ClinVar RCV Id: RCV000854228
dbSNP Id: rs1603221579
MyVariant Identifiers: chrMT:g.8547T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8547T>C , J01415.2:m.8547T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.182T>C (MT-ATP8) ENSP00000355265.1:p.Leu61Pro
ENST00000361899.2:c.21T>C (MT-ATP6) ENSP00000354632.2:p.Ala7=
Search 100 bp 5'
Search 100 bp 3'