Canonical Allele Identifier: CA1032223342
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1676377606
gnomAD v3: 2-73640825-T-G
gnomAD v4: 2-73640825-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640825T>G , CM000664.2:g.73640825T>G GRCh38
NC_000002.11:g.73867952T>G , CM000664.1:g.73867952T>G GRCh37
NC_000002.10:g.73721460T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*120A>C MANE Select ENSP00000272425.3:n.*120A>C
NM_003960.3:c.*120A>C NP_003951.3:n.*120A>C
NM_003960.4:c.*120A>C MANE Select NP_003951.3:n.*120A>C
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