Canonical Allele Identifier: CA1715662
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs376732540
ExAC: 2:73868186 G / T
gnomAD v2: 2-73868186-G-T
gnomAD v4: 2-73641059-G-T
MyVariant Identifiers: chr2:g.73868186G>T (hg19) chr2:g.73641059G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641059G>T , CM000664.2:g.73641059G>T GRCh38
NC_000002.11:g.73868186G>T , CM000664.1:g.73868186G>T GRCh37
NC_000002.10:g.73721694G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.570C>A MANE Select ENSP00000272425.3:p.Ser190Arg
ENST00000272425.3:c.570C>A ENSP00000272425.3:p.Ser190Arg
NM_003960.3:c.570C>A NP_003951.3:p.Ser190Arg
NM_003960.4:c.570C>A MANE Select NP_003951.3:p.Ser190Arg
Search 100 bp 5'
Search 100 bp 3'