ClinGen Allele Registry
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Canonical Allele Identifier:
CA10581258
Gene: MT-ATP6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8704A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000224912
RCV000854295
ClinVar Variation:
235260
dbSNP:
878852994
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8704A>G , J01415.2:m.8704A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.178A>G
ENSP00000354632.2:p.Ile60Val
Search 100 bp 5'
Search 100 bp 3'