Canonical Allele Identifier: CA347286638
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868179A>G (hg19) chr2:g.73641052A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641052A>G , CM000664.2:g.73641052A>G GRCh38
NC_000002.11:g.73868179A>G , CM000664.1:g.73868179A>G GRCh37
NC_000002.10:g.73721687A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.577T>C MANE Select ENSP00000272425.3:p.Phe193Leu
ENST00000272425.3:c.577T>C ENSP00000272425.3:p.Phe193Leu
NM_003960.3:c.577T>C NP_003951.3:p.Phe193Leu
NM_003960.4:c.577T>C MANE Select NP_003951.3:p.Phe193Leu
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