Canonical Allele Identifier: CA414799071
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693031
ClinVar RCV Id: RCV000854372
dbSNP Id: rs1603221928
MyVariant Identifiers: chrMT:g.8941C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8941C>T , J01415.2:m.8941C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.415C>T ENSP00000354632.2:p.Pro139Ser