Canonical Allele Identifier: CA347286270
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73641004-C-T
MyVariant Identifiers: chr2:g.73868131C>T (hg19) chr2:g.73641004C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641004C>T , CM000664.2:g.73641004C>T GRCh38
NC_000002.11:g.73868131C>T , CM000664.1:g.73868131C>T GRCh37
NC_000002.10:g.73721639C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.625G>A MANE Select ENSP00000272425.3:p.Ala209Thr
ENST00000272425.3:c.625G>A ENSP00000272425.3:p.Ala209Thr
NM_003960.3:c.625G>A NP_003951.3:p.Ala209Thr
NM_003960.4:c.625G>A MANE Select NP_003951.3:p.Ala209Thr
Search 100 bp 5'
Search 100 bp 3'