Canonical Allele Identifier: CA414796253
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692870
ClinVar RCV Id: RCV000854200
dbSNP Id: rs1603221515
MyVariant Identifiers: chrMT:g.8474C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8474C>T , J01415.2:m.8474C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.109C>T ENSP00000355265.1:p.Pro37Ser