Canonical Allele Identifier: CA340937

Gene: MT-ND5

Linked Data

• ClinVar Variation Id: 9704
• ClinVar RCV Id: RCV000010350
• dbSNP Id: rs267606899
• MyVariant Identifiers: chrMT:g.12848C>T (hg38)
• PubMed: PMID:16240359 ; PMID:20301353

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