Canonical Allele Identifier: CA414820442
Gene: MT-ND5 HGNC NCBI

Linked Data

dbSNP Id: rs28359185
MyVariant Identifiers: chrMT:g.14000T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14000T>C , J01415.2:m.14000T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1664T>C ENSP00000354813.2:p.Leu555Pro