Canonical Allele Identifier: CA2659622852
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640801-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640801A>C , CM000664.2:g.73640801A>C GRCh38
NC_000002.11:g.73867928A>C , CM000664.1:g.73867928A>C GRCh37
NC_000002.10:g.73721436A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*144T>G MANE Select ENSP00000272425.3:n.*144T>G
NM_003960.3:c.*144T>G NP_003951.3:n.*144T>G
NM_003960.4:c.*144T>G MANE Select NP_003951.3:n.*144T>G