Allele Registry

Canonical Allele Identifier: CA340931

Gene: MT-CYB HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM1138306

COSM1138307

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.15257G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010312

RCV000855257

ClinVar Variation:

9674

dbSNP:

41518645

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.15257G>A , J01415.2:m.15257G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361789.2:c.511G>A	ENSP00000354554.2:p.Asp171Asn

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