Canonical Allele Identifier: CA414814101
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693471
ClinVar RCV Id: RCV000854843
dbSNP Id: rs1603223847
MyVariant Identifiers: chrMT:g.12631T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12631T>C , J01415.2:m.12631T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.295T>C ENSP00000354813.2:p.Ser99Pro