Canonical Allele Identifier: CA414796438
Gene: MT-ATP8 HGNC NCBI

Linked Data

dbSNP Id: rs1603221552
MyVariant Identifiers: chrMT:g.8513C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8513C>A , J01415.2:m.8513C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.148C>A ENSP00000355265.1:p.Pro50Thr