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: CA254854

Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9695

ClinVar RCV Id: RCV000010335 RCV000855091

dbSNP Id: rs199476110

MyVariant Identifiers: chrMT:g.14319T>C (hg38)

PubMed: PMID:18524835

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14319T>C , J01415.2:m.14319T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361681.2:c.355A>G	ENSP00000354665.2:p.Asn119Asp

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