Allele Registry

Canonical Allele Identifier: CA250587

Gene: MT-CYB HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.14985G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010314

RCV000855200

ClinVar Variation:

9676

dbSNP:

207459995

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14985G>A , J01415.2:m.14985G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361789.2:c.239G>A	ENSP00000354554.2:p.Arg80His

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