Allele Registry

Canonical Allele Identifier: CA337099778

Gene: MT-ND5 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM1132235

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13711G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000854971

ClinVar Variation:

693593

dbSNP:

879489195

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13711G>A , J01415.2:m.13711G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1375G>A	ENSP00000354813.2:p.Ala459Thr

Search 100 bp 5'

Search 100 bp 3'