Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA913173949

Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 618216

ClinVar RCV Id: RCV000756355 RCV000855302 RCV003166005

dbSNP Id: rs1569484723

ERepo: CA913173949/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.15467A>G , J01415.2:m.15467A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361789.2:c.721A>G	ENSP00000354554.2:p.Thr241Ala

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