Canonical Allele Identifier: CA1715648
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs767447107
ExAC: 2:73868146 A / C
gnomAD v2: 2-73868146-A-C
gnomAD v4: 2-73641019-A-C
MyVariant Identifiers: chr2:g.73868146A>C (hg19) chr2:g.73641019A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641019A>C , CM000664.2:g.73641019A>C GRCh38
NC_000002.11:g.73868146A>C , CM000664.1:g.73868146A>C GRCh37
NC_000002.10:g.73721654A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.610T>G MANE Select ENSP00000272425.3:p.Trp204Gly
ENST00000272425.3:c.610T>G ENSP00000272425.3:p.Trp204Gly
NM_003960.3:c.610T>G NP_003951.3:p.Trp204Gly
NM_003960.4:c.610T>G MANE Select NP_003951.3:p.Trp204Gly
Search 100 bp 5'
Search 100 bp 3'