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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:
CA376921381
Gene: NEUROG3
HGNC
NCBI
Linked Data
gnomAD v4:
10-69572452-T-A
MyVariant Identifiers:
chr10:g.71332208T>A (hg19)
chr10:g.69572452T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.69572452T>A , CM000672.2:g.69572452T>A
GRCh38
NC_000010.10:g.71332208T>A , CM000672.1:g.71332208T>A
GRCh37
NC_000010.9:g.71002214T>A
NCBI36
NG_021321.1:g.6003A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000242462.5:c.592A>T
MANE Select
ENSP00000242462.4:p.Thr198Ser
ENST00000242462.4:c.592A>T
ENSP00000242462.4:p.Thr198Ser
NM_020999.3:c.592A>T
NP_066279.2:p.Thr198Ser
XM_017016280.1:c.592A>T
XP_016871769.1:p.Thr198Ser
NM_020999.4:c.592A>T
MANE Select
NP_066279.2:p.Thr198Ser
Search 100 bp 5'
Search 100 bp 3'