Canonical Allele Identifier: CA1715620
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs766966000
gnomAD v2: 2-73868062-C-A
gnomAD v4: 2-73640935-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640935C>A , CM000664.2:g.73640935C>A GRCh38
NC_000002.11:g.73868062C>A , CM000664.1:g.73868062C>A GRCh37
NC_000002.10:g.73721570C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*10G>T MANE Select ENSP00000272425.3:n.*10G>T
ENST00000272425.3:c.*10G>T ENSP00000272425.3:n.*10G>T
NM_003960.3:c.*10G>T NP_003951.3:n.*10G>T
NM_003960.4:c.*10G>T MANE Select NP_003951.3:n.*10G>T