Canonical Allele Identifier: CA50370919
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1062868
gnomAD v3: 2-73641003-G-T
gnomAD v4: 2-73641003-G-T
MyVariant Identifiers: chr2:g.73868130G>T (hg19) chr2:g.73641003G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641003G>T , CM000664.2:g.73641003G>T GRCh38
NC_000002.11:g.73868130G>T , CM000664.1:g.73868130G>T GRCh37
NC_000002.10:g.73721638G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.626C>A MANE Select ENSP00000272425.3:p.Ala209Asp
ENST00000272425.3:c.626C>A ENSP00000272425.3:p.Ala209Asp
NM_003960.3:c.626C>A NP_003951.3:p.Ala209Asp
NM_003960.4:c.626C>A MANE Select NP_003951.3:p.Ala209Asp
Search 100 bp 5'
Search 100 bp 3'