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Canonical Allele Identifier:
CA259736
Gene: MT-ND1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.3388C>A
Linked Data - NCBI & NCI
ClinVar Allele:
38953
ClinVar RCV:
RCV000022892
RCV000853648
ClinVar Variation:
29998
dbSNP:
387906730
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3388C>A , J01415.2:m.3388C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.82C>A
ENSP00000354687.2:p.Leu28Ile
Search 100 bp 5'
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