Canonical Allele Identifier: CA2659622890
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640846-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640846G>A , CM000664.2:g.73640846G>A GRCh38
NC_000002.11:g.73867973G>A , CM000664.1:g.73867973G>A GRCh37
NC_000002.10:g.73721481G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*99C>T MANE Select ENSP00000272425.3:n.*99C>T
ENST00000272425.3:c.*99C>T ENSP00000272425.3:n.*99C>T
NM_003960.3:c.*99C>T NP_003951.3:n.*99C>T
NM_003960.4:c.*99C>T MANE Select NP_003951.3:n.*99C>T