Canonical Allele Identifier: CA347286119
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868110T>A (hg19) chr2:g.73640983T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640983T>A , CM000664.2:g.73640983T>A GRCh38
NC_000002.11:g.73868110T>A , CM000664.1:g.73868110T>A GRCh37
NC_000002.10:g.73721618T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.646A>T MANE Select ENSP00000272425.3:p.Ile216Phe
ENST00000272425.3:c.646A>T ENSP00000272425.3:p.Ile216Phe
NM_003960.3:c.646A>T NP_003951.3:p.Ile216Phe
NM_003960.4:c.646A>T MANE Select NP_003951.3:p.Ile216Phe
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