Canonical Allele Identifier: CA347286589
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1225731648
gnomAD v2: 2-73868173-T-C
MyVariant Identifiers: chr2:g.73868173T>C (hg19) chr2:g.73641046T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641046T>C , CM000664.2:g.73641046T>C GRCh38
NC_000002.11:g.73868173T>C , CM000664.1:g.73868173T>C GRCh37
NC_000002.10:g.73721681T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.583A>G MANE Select ENSP00000272425.3:p.Lys195Glu
ENST00000272425.3:c.583A>G ENSP00000272425.3:p.Lys195Glu
NM_003960.3:c.583A>G NP_003951.3:p.Lys195Glu
NM_003960.4:c.583A>G MANE Select NP_003951.3:p.Lys195Glu
Search 100 bp 5'
Search 100 bp 3'