Canonical Allele Identifier: CA1261057077
Gene: NAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640946C= , CM000664.2:g.73640946C= GRCh38
NC_000002.11:g.73868073C= , CM000664.1:g.73868073C= GRCh37
NC_000002.10:g.73721581C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.683G= MANE Select ENSP00000272425.3:p.Ter228=
ENST00000272425.3:c.683G= ENSP00000272425.3:p.Ter228=
NM_003960.3:c.683G= NP_003951.3:p.Ter228=
NM_003960.4:c.683G= MANE Select NP_003951.3:p.Ter228=