Canonical Allele Identifier: CA347286854
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs761901521
gnomAD v4: 2-73641079-C-T
MyVariant Identifiers: chr2:g.73868206C>T (hg19) chr2:g.73641079C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641079C>T , CM000664.2:g.73641079C>T GRCh38
NC_000002.11:g.73868206C>T , CM000664.1:g.73868206C>T GRCh37
NC_000002.10:g.73721714C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.550G>A MANE Select ENSP00000272425.3:p.Ala184Thr
ENST00000272425.3:c.550G>A ENSP00000272425.3:p.Ala184Thr
NM_003960.3:c.550G>A NP_003951.3:p.Ala184Thr
NM_003960.4:c.550G>A MANE Select NP_003951.3:p.Ala184Thr
Search 100 bp 5'
Search 100 bp 3'