Canonical Allele Identifier: CA170537
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 143923
ClinVar RCV Id: RCV000133454 RCV002247532
dbSNP Id: rs527236207
MyVariant Identifiers: chrMT:g.15259C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.15259C>T , J01415.2:m.15259C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361789.2:c.513C>T ENSP00000354554.2:p.Asp171=
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