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Canonical Allele Identifier:
CA10581388
Gene: MT-ND1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.3796A>T
Linked Data - NCBI & NCI
ClinVar Allele:
237334
ClinVar RCV:
RCV000224953
RCV000853709
ClinVar Variation:
235654
dbSNP:
28357970
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3796A>T , J01415.2:m.3796A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.490A>T
ENSP00000354687.2:p.Thr164Ser
Search 100 bp 5'
Search 100 bp 3'