Canonical Allele Identifier: CA50370854
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1062871
gnomAD v4: 2-73640962-T-G
MyVariant Identifiers: chr2:g.73868089T>G (hg19) chr2:g.73640962T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640962T>G , CM000664.2:g.73640962T>G GRCh38
NC_000002.11:g.73868089T>G , CM000664.1:g.73868089T>G GRCh37
NC_000002.10:g.73721597T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.667A>C MANE Select ENSP00000272425.3:p.Lys223Gln
ENST00000272425.3:c.667A>C ENSP00000272425.3:p.Lys223Gln
NM_003960.3:c.667A>C NP_003951.3:p.Lys223Gln
NM_003960.4:c.667A>C MANE Select NP_003951.3:p.Lys223Gln
Search 100 bp 5'
Search 100 bp 3'