Canonical Allele Identifier: CA414796731
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692905
ClinVar RCV Id: RCV000854240
dbSNP Id: rs1603221586
MyVariant Identifiers: chrMT:g.8567T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8567T>C , J01415.2:m.8567T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.202T>C (MT-ATP8) ENSP00000355265.1:p.Ser68Pro
ENST00000361899.2:c.41T>C (MT-ATP6) ENSP00000354632.2:p.Ile14Thr
Search 100 bp 5'
Search 100 bp 3'