Canonical Allele Identifier: CA2659622868
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640817-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640817C>T , CM000664.2:g.73640817C>T GRCh38
NC_000002.11:g.73867944C>T , CM000664.1:g.73867944C>T GRCh37
NC_000002.10:g.73721452C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*128G>A MANE Select ENSP00000272425.3:n.*128G>A
NM_003960.3:c.*128G>A NP_003951.3:n.*128G>A
NM_003960.4:c.*128G>A MANE Select NP_003951.3:n.*128G>A