Canonical Allele Identifier: CA2659622917
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640895-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640895G>T , CM000664.2:g.73640895G>T GRCh38
NC_000002.11:g.73868022G>T , CM000664.1:g.73868022G>T GRCh37
NC_000002.10:g.73721530G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*50C>A MANE Select ENSP00000272425.3:n.*50C>A
ENST00000272425.3:c.*50C>A ENSP00000272425.3:n.*50C>A
NM_003960.3:c.*50C>A NP_003951.3:n.*50C>A
NM_003960.4:c.*50C>A MANE Select NP_003951.3:n.*50C>A