Canonical Allele Identifier: CA2600435853
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1377228828
gnomAD v3: 2-73640865-G-A
gnomAD v4: 2-73640865-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640865G>A , CM000664.2:g.73640865G>A GRCh38
NC_000002.11:g.73867992G>A , CM000664.1:g.73867992G>A GRCh37
NC_000002.10:g.73721500G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*80C>T MANE Select ENSP00000272425.3:n.*80C>T
ENST00000272425.3:c.*80C>T ENSP00000272425.3:n.*80C>T
NM_003960.3:c.*80C>T NP_003951.3:n.*80C>T
NM_003960.4:c.*80C>T MANE Select NP_003951.3:n.*80C>T
Search 100 bp 5'
Search 100 bp 3'