Canonical Allele Identifier: CA414820143
Gene: MT-ND5 HGNC NCBI
dbSNP:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13928G>T , J01415.2:m.13928G>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1592G>T ENSP00000354813.2:p.Ser531Ile