ClinGen Allele Registry
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Canonical Allele Identifier:
CA345704
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140588
ClinVar RCV Id:
RCV000128803
dbSNP Id:
rs193302982
MyVariant Identifiers:
chrMT:g.14783T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14783T>C , J01415.2:m.14783T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.37T>C
ENSP00000354554.2:p.Leu13=
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