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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:
CA370635796
Gene: NAT2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.18257912G>T (hg19)
chr8:g.18400402G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.18400402G>T , CM000670.2:g.18400402G>T
GRCh38
NC_000008.10:g.18257912G>T , CM000670.1:g.18257912G>T
GRCh37
NC_000008.9:g.18302192G>T
NCBI36
NG_012246.1:g.14158G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000286479.4:c.399G>T
MANE Select
ENSP00000286479.3:p.Gln133His
ENST00000286479.3:c.399G>T
ENSP00000286479.3:p.Gln133His
ENST00000520116.1:c.9G>T
ENSP00000428416.1:p.Gln3His
NM_000015.2:c.399G>T
NP_000006.2:p.Gln133His
XM_011544358.1:c.399G>T
XP_011542660.1:p.Gln133His
XM_017012938.1:c.399G>T
XP_016868427.1:p.Gln133His
NM_000015.3:c.399G>T
MANE Select
NP_000006.2:p.Gln133His
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