Canonical Allele Identifier: CA414801955
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 690280
ClinVar RCV Id: RCV000851177 RCV000854406 RCV001196557 RCV002249546 RCV002466594 RCV002260672
dbSNP Id: rs1603222000
MyVariant Identifiers: chrMT:g.9035T>C (hg38)
ERepo: CA414801955/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9035T>C , J01415.2:m.9035T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.509T>C ENSP00000354632.2:p.Leu170Pro
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Search 100 bp 3'