Canonical Allele Identifier: CA2577005374
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs2103667263
gnomAD v3: 2-73640885-G-C
gnomAD v4: 2-73640885-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640885G>C , CM000664.2:g.73640885G>C GRCh38
NC_000002.11:g.73868012G>C , CM000664.1:g.73868012G>C GRCh37
NC_000002.10:g.73721520G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*60C>G MANE Select ENSP00000272425.3:n.*60C>G
ENST00000272425.3:c.*60C>G ENSP00000272425.3:n.*60C>G
NM_003960.3:c.*60C>G NP_003951.3:n.*60C>G
NM_003960.4:c.*60C>G MANE Select NP_003951.3:n.*60C>G
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