Canonical Allele Identifier: CA347286535
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868166C>A (hg19) chr2:g.73641039C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641039C>A , CM000664.2:g.73641039C>A GRCh38
NC_000002.11:g.73868166C>A , CM000664.1:g.73868166C>A GRCh37
NC_000002.10:g.73721674C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.590G>T MANE Select ENSP00000272425.3:p.Gly197Val
ENST00000272425.3:c.590G>T ENSP00000272425.3:p.Gly197Val
NM_003960.3:c.590G>T NP_003951.3:p.Gly197Val
NM_003960.4:c.590G>T MANE Select NP_003951.3:p.Gly197Val
Search 100 bp 5'
Search 100 bp 3'