Allele Registry

Canonical Allele Identifier: CA16040651

Gene: MT-ATP6 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.9166T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000408929

RCV000854464

RCV001090137

ClinVar Variation:

370051

dbSNP:

1057516063

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9166T>C , J01415.2:m.9166T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.640T>C	ENSP00000354632.2:p.Phe214Leu

Search 100 bp 5'

Search 100 bp 3'