Canonical Allele Identifier: CA2659622911
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640874-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640874G>C , CM000664.2:g.73640874G>C GRCh38
NC_000002.11:g.73868001G>C , CM000664.1:g.73868001G>C GRCh37
NC_000002.10:g.73721509G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*71C>G MANE Select ENSP00000272425.3:n.*71C>G
ENST00000272425.3:c.*71C>G ENSP00000272425.3:n.*71C>G
NM_003960.3:c.*71C>G NP_003951.3:n.*71C>G
NM_003960.4:c.*71C>G MANE Select NP_003951.3:n.*71C>G
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