Canonical Allele Identifier: CA2659622869
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640818-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640818A>C , CM000664.2:g.73640818A>C GRCh38
NC_000002.11:g.73867945A>C , CM000664.1:g.73867945A>C GRCh37
NC_000002.10:g.73721453A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*127T>G MANE Select ENSP00000272425.3:n.*127T>G
NM_003960.3:c.*127T>G NP_003951.3:n.*127T>G
NM_003960.4:c.*127T>G MANE Select NP_003951.3:n.*127T>G