Canonical Allele Identifier: CA892866920
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1371002377
gnomAD v3: 2-73640840-C-T
gnomAD v4: 2-73640840-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640840C>T , CM000664.2:g.73640840C>T GRCh38
NC_000002.11:g.73867967C>T , CM000664.1:g.73867967C>T GRCh37
NC_000002.10:g.73721475C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*105G>A MANE Select ENSP00000272425.3:n.*105G>A
ENST00000272425.3:c.*105G>A ENSP00000272425.3:n.*105G>A
NM_003960.3:c.*105G>A NP_003951.3:n.*105G>A
NM_003960.4:c.*105G>A MANE Select NP_003951.3:n.*105G>A