Canonical Allele Identifier: CA347286435
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1676382772
gnomAD v3: 2-73641027-A-C
gnomAD v4: 2-73641027-A-C
MyVariant Identifiers: chr2:g.73868154A>C (hg19) chr2:g.73641027A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641027A>C , CM000664.2:g.73641027A>C GRCh38
NC_000002.11:g.73868154A>C , CM000664.1:g.73868154A>C GRCh37
NC_000002.10:g.73721662A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.602T>G MANE Select ENSP00000272425.3:p.Phe201Cys
ENST00000272425.3:c.602T>G ENSP00000272425.3:p.Phe201Cys
NM_003960.3:c.602T>G NP_003951.3:p.Phe201Cys
NM_003960.4:c.602T>G MANE Select NP_003951.3:p.Phe201Cys
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