Canonical Allele Identifier: CA340937
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9704
ClinVar RCV Id: RCV000010350
dbSNP Id: rs267606899
MyVariant Identifiers: chrMT:g.12848C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12848C>T , J01415.2:m.12848C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.512C>T ENSP00000354813.2:p.Ala171Val