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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA340942
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9723
ClinVar RCV Id:
RCV000010372
dbSNP Id:
rs199476119
MyVariant Identifiers:
chrMT:g.4160T>C (hg38)
PubMed:
PMID:1928099
PMID:20301353
ERepo:
CA340942/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4160T>C , J01415.2:m.4160T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.854T>C
ENSP00000354687.2:p.Leu285Pro
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