Canonical Allele Identifier: CA50370749
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs563547940
gnomAD v2: 2-73867943-A-G
gnomAD v3: 2-73640816-A-G
gnomAD v4: 2-73640816-A-G
MyVariant Identifiers: chr2:g.73867943A>G (hg19) chr2:g.73640816A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640816A>G , CM000664.2:g.73640816A>G GRCh38
NC_000002.11:g.73867943A>G , CM000664.1:g.73867943A>G GRCh37
NC_000002.10:g.73721451A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*129T>C MANE Select ENSP00000272425.3:n.*129T>C
NM_003960.3:c.*129T>C NP_003951.3:n.*129T>C
NM_003960.4:c.*129T>C MANE Select NP_003951.3:n.*129T>C
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