Canonical Allele Identifier: CA2577005365
Gene: NAT8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640846G>T , CM000664.2:g.73640846G>T GRCh38
NC_000002.11:g.73867973G>T , CM000664.1:g.73867973G>T GRCh37
NC_000002.10:g.73721481G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*99C>A MANE Select ENSP00000272425.3:n.*99C>A
ENST00000272425.3:c.*99C>A ENSP00000272425.3:n.*99C>A
NM_003960.3:c.*99C>A NP_003951.3:n.*99C>A
NM_003960.4:c.*99C>A MANE Select NP_003951.3:n.*99C>A
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