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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:
CA376921419
Gene: NEUROG3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.71332213C>G (hg19)
chr10:g.69572457C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.69572457C>G , CM000672.2:g.69572457C>G
GRCh38
NC_000010.10:g.71332213C>G , CM000672.1:g.71332213C>G
GRCh37
NC_000010.9:g.71002219C>G
NCBI36
NG_021321.1:g.5998G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000242462.5:c.587G>C
MANE Select
ENSP00000242462.4:p.Gly196Ala
ENST00000242462.4:c.587G>C
ENSP00000242462.4:p.Gly196Ala
NM_020999.3:c.587G>C
NP_066279.2:p.Gly196Ala
XM_017016280.1:c.587G>C
XP_016871769.1:p.Gly196Ala
NM_020999.4:c.587G>C
MANE Select
NP_066279.2:p.Gly196Ala
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