Canonical Allele Identifier: CA414814800
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693482
ClinVar RCV Id: RCV000854854
dbSNP Id: rs1603223899
MyVariant Identifiers: chrMT:g.12775G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12775G>A , J01415.2:m.12775G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.439G>A ENSP00000354813.2:p.Val147Ile