Canonical Allele Identifier: CA2659622932
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640916-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640916C>A , CM000664.2:g.73640916C>A GRCh38
NC_000002.11:g.73868043C>A , CM000664.1:g.73868043C>A GRCh37
NC_000002.10:g.73721551C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*29G>T MANE Select ENSP00000272425.3:n.*29G>T
ENST00000272425.3:c.*29G>T ENSP00000272425.3:n.*29G>T
NM_003960.3:c.*29G>T NP_003951.3:n.*29G>T
NM_003960.4:c.*29G>T MANE Select NP_003951.3:n.*29G>T