Canonical Allele Identifier: CA1261056985
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1676376920
gnomAD v4: 2-73640794-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640794A>G , CM000664.2:g.73640794A>G GRCh38
NC_000002.11:g.73867921A>G , CM000664.1:g.73867921A>G GRCh37
NC_000002.10:g.73721429A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*151T>C MANE Select ENSP00000272425.3:n.*151T>C
NM_003960.3:c.*151T>C NP_003951.3:n.*151T>C
NM_003960.4:c.*151T>C MANE Select NP_003951.3:n.*151T>C
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