Canonical Allele Identifier: CA347286779
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868196A>G (hg19) chr2:g.73641069A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641069A>G , CM000664.2:g.73641069A>G GRCh38
NC_000002.11:g.73868196A>G , CM000664.1:g.73868196A>G GRCh37
NC_000002.10:g.73721704A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.560T>C MANE Select ENSP00000272425.3:p.Leu187Pro
ENST00000272425.3:c.560T>C ENSP00000272425.3:p.Leu187Pro
NM_003960.3:c.560T>C NP_003951.3:p.Leu187Pro
NM_003960.4:c.560T>C MANE Select NP_003951.3:p.Leu187Pro
Search 100 bp 5'
Search 100 bp 3'