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: CA344829

Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65520

ClinVar RCV Id: RCV000055709 RCV000853724

dbSNP Id: rs397515509

MyVariant Identifiers: chrMT:g.4025C>T (hg38)

PubMed: PMID:20301353

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4025C>T , J01415.2:m.4025C>T	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361390.2:c.719C>T	ENSP00000354687.2:p.Thr240Ile

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