Canonical Allele Identifier: CA337096634
Gene: MT-ND1 HGNC NCBI

Linked Data

dbSNP Id: rs193303027
MyVariant Identifiers: chrMT:g.3693G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3693G>C , J01415.2:m.3693G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.387G>C ENSP00000354687.2:p.Leu129=