Canonical Allele Identifier: CA1715629
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1062874
ExAC: 2:73868075 C / G
gnomAD v2: 2-73868075-C-G
gnomAD v4: 2-73640948-C-G
MyVariant Identifiers: chr2:g.73868075C>G (hg19) chr2:g.73640948C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640948C>G , CM000664.2:g.73640948C>G GRCh38
NC_000002.11:g.73868075C>G , CM000664.1:g.73868075C>G GRCh37
NC_000002.10:g.73721583C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.681G>C MANE Select ENSP00000272425.3:p.Leu227=
ENST00000272425.3:c.681G>C ENSP00000272425.3:p.Leu227=
NM_003960.3:c.681G>C NP_003951.3:p.Leu227=
NM_003960.4:c.681G>C MANE Select NP_003951.3:p.Leu227=
Search 100 bp 5'
Search 100 bp 3'