ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096789
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692422
ClinVar RCV Id:
RCV000853732
dbSNP Id:
rs200180511
MyVariant Identifiers:
chrMT:g.4093A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4093A>G , J01415.2:m.4093A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.787A>G
ENSP00000354687.2:p.Thr263Ala
Search 100 bp 5'
Search 100 bp 3'