Canonical Allele Identifier: CA2659622909
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640873-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640873A>G , CM000664.2:g.73640873A>G GRCh38
NC_000002.11:g.73868000A>G , CM000664.1:g.73868000A>G GRCh37
NC_000002.10:g.73721508A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*72T>C MANE Select ENSP00000272425.3:n.*72T>C
ENST00000272425.3:c.*72T>C ENSP00000272425.3:n.*72T>C
NM_003960.3:c.*72T>C NP_003951.3:n.*72T>C
NM_003960.4:c.*72T>C MANE Select NP_003951.3:n.*72T>C