Canonical Allele Identifier: CA347286640
Gene: NAT8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.577T>G MANE Select ENSP00000272425.3:p.Phe193Val
ENST00000272425.3:c.577T>G ENSP00000272425.3:p.Phe193Val
NM_003960.3:c.577T>G NP_003951.3:p.Phe193Val
NM_003960.4:c.577T>G MANE Select NP_003951.3:p.Phe193Val