Allele Registry

Canonical Allele Identifier: CA414796067

Gene: MT-ATP8 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.8430T>C

Linked Data - NCBI & NCI

ClinVar Allele:

681391

ClinVar RCV:

RCV000854185

ClinVar Variation:

692855

dbSNP:

1603221478

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8430T>C , J01415.2:m.8430T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361851.1:c.65T>C	ENSP00000355265.1:p.Leu22Pro

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