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: CA337097900

Gene: MT-ATP8 HGNC NCBI

Linked Data

dbSNP Id: rs377093295

MyVariant Identifiers: chrMT:g.8483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8483A>G , J01415.2:m.8483A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361851.1:c.118A>G	ENSP00000355265.1:p.Lys40Glu

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