ClinGen Allele Registry
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Canonical Allele Identifier:
CA337100488
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693930
ClinVar RCV Id:
RCV000855348
dbSNP Id:
rs199967113
MyVariant Identifiers:
chrMT:g.15672T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15672T>C , J01415.2:m.15672T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.926T>C
ENSP00000354554.2:p.Ile309Thr
Search 100 bp 5'
Search 100 bp 3'