Allele Registry

Canonical Allele Identifier: CA337096602

Gene: MT-ND1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3593T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000853682

ClinVar Variation:

692376

dbSNP:

2854134

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3593T>C , J01415.2:m.3593T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.287T>C	ENSP00000354687.2:p.Val96Ala

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