Canonical Allele Identifier: CA414774276
Gene: MT-ND1 HGNC NCBI

Linked Data

dbSNP Id: rs1603219321
MyVariant Identifiers: chrMT:g.4144T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4144T>C , J01415.2:m.4144T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.838T>C ENSP00000354687.2:p.Phe280Leu