ClinGen Allele Registry
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Canonical Allele Identifier:
CA120618
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9680
ClinVar RCV Id:
RCV000010318
RCV000855252
dbSNP Id:
rs207459999
MyVariant Identifiers:
chrMT:g.15242G>A (hg38)
ERepo:
CA120618/MONDO:0044970/014
PubMed:
PMID:11047755
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15242G>A , J01415.2:m.15242G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.496G>A
ENSP00000354554.2:p.Gly166Arg
Search 100 bp 5'
Search 100 bp 3'