Canonical Allele Identifier: CA414818324
Gene: MT-ND5 HGNC NCBI

Linked Data

dbSNP Id: rs267606897
MyVariant Identifiers: chrMT:g.13513G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13513G>C , J01415.2:m.13513G>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.1177G>C ENSP00000354813.2:p.Asp393His