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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:
CA120633
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9703
ClinVar RCV Id:
RCV000010347
RCV000010348
RCV000010349
RCV000854885
RCV002260592
dbSNP Id:
rs267606898
COSMIC:
COSM5652748
MyVariant Identifiers:
chrMT:g.13042G>A (hg38)
PubMed:
PMID:15767514
PMID:17400793
ERepo:
CA120633/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13042G>A , J01415.2:m.13042G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.706G>A
ENSP00000354813.2:p.Ala236Thr
Search 100 bp 5'
Search 100 bp 3'