Canonical Allele Identifier: CA16040642
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 370065
ClinVar RCV Id: RCV000408934 RCV000855255
dbSNP Id: rs1057516075
MyVariant Identifiers: chrMT:g.15246G>A (hg38)
PubMed: PMID:28027978
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.15246G>A , J01415.2:m.15246G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361789.2:c.500G>A ENSP00000354554.2:p.Gly167Asp
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