Canonical Allele Identifier: CA414774339
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692431
ClinVar RCV Id: RCV000853744
dbSNP Id: rs1603219337
MyVariant Identifiers: chrMT:g.4172T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4172T>A , J01415.2:m.4172T>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.866T>A ENSP00000354687.2:p.Leu289Gln