Canonical Allele Identifier: CA10581268
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 235294
ClinVar RCV Id: RCV000224525 RCV000854218
dbSNP Id: rs878853003
MyVariant Identifiers: chrMT:g.8527A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8527A>G , J01415.2:m.8527A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.162A>G (MT-ATP8) ENSP00000355265.1:p.Lys54=
ENST00000361899.2:c.1A>G (MT-ATP6) ENSP00000354632.2:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'