Canonical Allele Identifier: CA347286698
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868187C>A (hg19) chr2:g.73641060C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641060C>A , CM000664.2:g.73641060C>A GRCh38
NC_000002.11:g.73868187C>A , CM000664.1:g.73868187C>A GRCh37
NC_000002.10:g.73721695C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.569G>T MANE Select ENSP00000272425.3:p.Ser190Ile
ENST00000272425.3:c.569G>T ENSP00000272425.3:p.Ser190Ile
NM_003960.3:c.569G>T NP_003951.3:p.Ser190Ile
NM_003960.4:c.569G>T MANE Select NP_003951.3:p.Ser190Ile
Search 100 bp 5'
Search 100 bp 3'