ClinGen Allele Registry
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Canonical Allele Identifier:
CA120621
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9683
ClinVar RCV Id:
RCV000010321
RCV000855325
RCV002247306
RCV003153301
dbSNP Id:
rs207460002
MyVariant Identifiers:
chrMT:g.15579A>G (hg38)
ERepo:
CA120621/MONDO:0044970/014
PubMed:
PMID:11601507
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15579A>G , J01415.2:m.15579A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.833A>G
ENSP00000354554.2:p.Tyr278Cys
Search 100 bp 5'
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