Canonical Allele Identifier: CA533687779
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1375719078
gnomAD v2: 2-73867955-G-A
gnomAD v3: 2-73640828-G-A
gnomAD v4: 2-73640828-G-A
MyVariant Identifiers: chr2:g.73867955G>A (hg19) chr2:g.73640828G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640828G>A , CM000664.2:g.73640828G>A GRCh38
NC_000002.11:g.73867955G>A , CM000664.1:g.73867955G>A GRCh37
NC_000002.10:g.73721463G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*117C>T MANE Select ENSP00000272425.3:n.*117C>T
NM_003960.3:c.*117C>T NP_003951.3:n.*117C>T
NM_003960.4:c.*117C>T MANE Select NP_003951.3:n.*117C>T
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