Canonical Allele Identifier: CA2659622918
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640896-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640896C>G , CM000664.2:g.73640896C>G GRCh38
NC_000002.11:g.73868023C>G , CM000664.1:g.73868023C>G GRCh37
NC_000002.10:g.73721531C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*49G>C MANE Select ENSP00000272425.3:n.*49G>C
ENST00000272425.3:c.*49G>C ENSP00000272425.3:n.*49G>C
NM_003960.3:c.*49G>C NP_003951.3:n.*49G>C
NM_003960.4:c.*49G>C MANE Select NP_003951.3:n.*49G>C