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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:
CA459881240
Gene: NAT2
HGNC
NCBI
Linked Data
gnomAD v4:
8-18400405-T-C
MyVariant Identifiers:
chr8:g.18257915T>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.18400405T>C , CM000670.2:g.18400405T>C
GRCh38
NC_000008.10:g.18257915T>C , CM000670.1:g.18257915T>C
GRCh37
NC_000008.9:g.18302195T>C
NCBI36
NG_012246.1:g.14161T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000286479.4:c.402T>C
MANE Select
ENSP00000286479.3:p.Pro134=
ENST00000286479.3:c.402T>C
ENSP00000286479.3:p.Pro134=
ENST00000520116.1:c.12T>C
ENSP00000428416.1:p.Pro4=
NM_000015.2:c.402T>C
NP_000006.2:p.Pro134=
XM_011544358.1:c.402T>C
XP_011542660.1:p.Pro134=
XM_017012938.1:c.402T>C
XP_016868427.1:p.Pro134=
NM_000015.3:c.402T>C
MANE Select
NP_000006.2:p.Pro134=
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