Canonical Allele Identifier: CA347286671
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73641056-C-T
MyVariant Identifiers: chr2:g.73868183C>T (hg19) chr2:g.73641056C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641056C>T , CM000664.2:g.73641056C>T GRCh38
NC_000002.11:g.73868183C>T , CM000664.1:g.73868183C>T GRCh37
NC_000002.10:g.73721691C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.573G>A MANE Select ENSP00000272425.3:p.Met191Ile
ENST00000272425.3:c.573G>A ENSP00000272425.3:p.Met191Ile
NM_003960.3:c.573G>A NP_003951.3:p.Met191Ile
NM_003960.4:c.573G>A MANE Select NP_003951.3:p.Met191Ile
Search 100 bp 5'
Search 100 bp 3'