ClinGen Allele Registry
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Canonical Allele Identifier:
CA337097930
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8572G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000854242
ClinVar Variation:
692907
dbSNP:
28502681
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8572G>A , J01415.2:m.8572G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.207G>A
(MT-ATP8)
ENSP00000355265.1:p.Ter69=
ENST00000361899.2:c.46G>A
(MT-ATP6)
ENSP00000354632.2:p.Gly16Ser
Search 100 bp 5'
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