ClinGen Allele Registry
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Canonical Allele Identifier:
CA337098151
Gene: MT-ATP6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.9042C>T
Linked Data - NCBI & NCI
dbSNP:
3020605
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9042C>T , J01415.2:m.9042C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.516C>T
ENSP00000354632.2:p.His172=
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