Canonical Allele Identifier: CA892866950

Gene: NAT8

Linked Data

• dbSNP Id: rs1260608859
• gnomAD v3: 2-73640914-T-A
• gnomAD v4: 2-73640914-T-A
• MyVariant Identifiers: chr2:g.73868041T>A (hg19) ; chr2:g.73640914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640914T>A , CM000664.2:g.73640914T>A	GRCh38
NC_000002.11:g.73868041T>A , CM000664.1:g.73868041T>A	GRCh37
NC_000002.10:g.73721549T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*31A>T MANE Select	ENSP00000272425.3:n.*31A>T
ENST00000272425.3:c.*31A>T	ENSP00000272425.3:n.*31A>T
NM_003960.3:c.*31A>T	NP_003951.3:n.*31A>T
NM_003960.4:c.*31A>T MANE Select	NP_003951.3:n.*31A>T