Allele Registry

Canonical Allele Identifier: CA337099816

Gene: MT-ND5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13789T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000854988

ClinVar Variation:

693610

dbSNP:

28359179

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13789T>C , J01415.2:m.13789T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1453T>C	ENSP00000354813.2:p.Tyr485His

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