Canonical Allele Identifier: CA414813748
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693463
ClinVar RCV Id: RCV000854835
dbSNP Id: rs1556424125
MyVariant Identifiers: chrMT:g.12557C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12557C>T , J01415.2:m.12557C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.221C>T ENSP00000354813.2:p.Thr74Ile
Search 100 bp 5'
Search 100 bp 3'