ClinGen Allele Registry
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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
JSON-LD
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
Search 100 bp 5'
Search 100 bp 3'