Canonical Allele Identifier: CA427024377
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73641029-G-A
MyVariant Identifiers: chr2:g.73868156G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641029G>A , CM000664.2:g.73641029G>A GRCh38
NC_000002.11:g.73868156G>A , CM000664.1:g.73868156G>A GRCh37
NC_000002.10:g.73721664G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.600C>T MANE Select ENSP00000272425.3:p.Phe200=
ENST00000272425.3:c.600C>T ENSP00000272425.3:p.Phe200=
NM_003960.3:c.600C>T NP_003951.3:p.Phe200=
NM_003960.4:c.600C>T MANE Select NP_003951.3:p.Phe200=
Search 100 bp 5'
Search 100 bp 3'