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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:
CA120647
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9733
ClinVar RCV Id:
RCV000010385
RCV000010386
RCV000056168
RCV002221474
RCV003298030
dbSNP Id:
rs199476122
COSMIC:
COSM6119903
COSM6119904
MyVariant Identifiers:
chrMT:g.3697G>A (hg38)
PubMed:
PMID:15466014
PMID:17562939
PMID:20301353
ERepo:
CA120647/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3697G>A , J01415.2:m.3697G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.391G>A
ENSP00000354687.2:p.Gly131Ser
Search 100 bp 5'
Search 100 bp 3'