Canonical Allele Identifier: CA16603335
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377309
ClinVar RCV Id: RCV000435868
dbSNP Id: rs878982719
MyVariant Identifiers: chrMT:g.3498C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3498C>T , J01415.2:m.3498C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.192C>T ENSP00000354687.2:p.Ala64=