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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:
CA371455675
Gene: CNGB3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.87738783T>G (hg19)
chr8:g.86726555T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.86726555T>G , CM000670.2:g.86726555T>G
GRCh38
NC_000008.10:g.87738783T>G , CM000670.1:g.87738783T>G
GRCh37
NC_000008.9:g.87807899T>G
NCBI36
NG_016980.1:g.22121A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000320005.6:c.314A>C
MANE Select
ENSP00000316605.5:p.Asp105Ala
ENST00000681746.1:c.314A>C
ENSP00000505959.1:p.Asp105Ala
ENST00000320005.5:c.314A>C
ENSP00000316605.5:p.Asp105Ala
ENST00000519777.1:n.296A>C
NM_019098.4:c.314A>C
NP_061971.3:p.Asp105Ala
NM_019098.5:c.314A>C
MANE Select
NP_061971.3:p.Asp105Ala
Search 100 bp 5'
Search 100 bp 3'