Canonical Allele Identifier: CA347286000
Gene: NAT8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640956C>A , CM000664.2:g.73640956C>A GRCh38
NC_000002.11:g.73868083C>A , CM000664.1:g.73868083C>A GRCh37
NC_000002.10:g.73721591C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.673G>T MANE Select ENSP00000272425.3:p.Gly225Trp
ENST00000272425.3:c.673G>T ENSP00000272425.3:p.Gly225Trp
NM_003960.3:c.673G>T NP_003951.3:p.Gly225Trp
NM_003960.4:c.673G>T MANE Select NP_003951.3:p.Gly225Trp