Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA414796680

Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692900

ClinVar RCV Id: RCV000854235 RCV002221592

dbSNP Id: rs386829040

MyVariant Identifiers: chrMT:g.8557G>A (hg38)

ERepo: CA414796680/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8557G>A , J01415.2:m.8557G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361851.1:c.192G>A (MT-ATP8)	ENSP00000355265.1:p.Leu64=
ENST00000361899.2:c.31G>A (MT-ATP6)	ENSP00000354632.2:p.Ala11Thr

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