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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:
CA346954
Gene: CCNO
HGNC
NCBI
Linked Data
dbSNP Id:
rs797045150
gnomAD v4:
5-55231712-T-C
MyVariant Identifiers:
chr5:g.54527540T>C (hg19)
chr5:g.55231712T>C (hg38)
PubMed:
PMID:20301301
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.55231712T>C , CM000667.2:g.55231712T>C
GRCh38
NC_000005.9:g.54527540T>C , CM000667.1:g.54527540T>C
GRCh37
NC_000005.8:g.54563297T>C
NCBI36
NG_034201.1:g.7006A>G
NG_051620.1:g.604A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000282572.5:c.716A>G
MANE Select
ENSP00000282572.4:p.His239Arg
ENST00000282572.4:c.716A>G
ENSP00000282572.4:p.His239Arg
ENST00000501463.2:c.*696A>G
ENSP00000422485.1:n.*696A>G
NM_021147.4:c.716A>G
NP_066970.3:p.His239Arg
NR_125346.1:n.1286A>G
NR_125347.1:n.915A>G
NR_125348.1:n.780A>G
NM_021147.5:c.716A>G
MANE Select
NP_066970.3:p.His239Arg
NR_125346.2:n.1177A>G
NR_125347.2:n.806A>G
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