Canonical Allele Identifier: CA414796414
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692882
ClinVar RCV Id: RCV000854212
dbSNP Id: rs1603221548
MyVariant Identifiers: chrMT:g.8508A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8508A>G , J01415.2:m.8508A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.143A>G ENSP00000355265.1:p.Asn48Ser
Search 100 bp 5'
Search 100 bp 3'