Canonical Allele Identifier: CA414795875
Gene: MT-ATP8 HGNC NCBI

Linked Data

dbSNP Id: rs2124594598
MyVariant Identifiers: chrMT:g.8385C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8385C>T , J01415.2:m.8385C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.20C>T ENSP00000355265.1:p.Thr7Ile