Canonical Allele Identifier: CA347286021
Gene: NAT8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640961T>A , CM000664.2:g.73640961T>A GRCh38
NC_000002.11:g.73868088T>A , CM000664.1:g.73868088T>A GRCh37
NC_000002.10:g.73721596T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.668A>T MANE Select ENSP00000272425.3:p.Lys223Met
ENST00000272425.3:c.668A>T ENSP00000272425.3:p.Lys223Met
NM_003960.3:c.668A>T NP_003951.3:p.Lys223Met
NM_003960.4:c.668A>T MANE Select NP_003951.3:p.Lys223Met