Canonical Allele Identifier: CA347286091
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73640979-T-A
MyVariant Identifiers: chr2:g.73868106T>A (hg19) chr2:g.73640979T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640979T>A , CM000664.2:g.73640979T>A GRCh38
NC_000002.11:g.73868106T>A , CM000664.1:g.73868106T>A GRCh37
NC_000002.10:g.73721614T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.650A>T MANE Select ENSP00000272425.3:p.Tyr217Phe
ENST00000272425.3:c.650A>T ENSP00000272425.3:p.Tyr217Phe
NM_003960.3:c.650A>T NP_003951.3:p.Tyr217Phe
NM_003960.4:c.650A>T MANE Select NP_003951.3:p.Tyr217Phe
Search 100 bp 5'
Search 100 bp 3'