Canonical Allele Identifier: CA347285998

Gene: NAT8

Linked Data

• dbSNP Id: rs1400091345
• gnomAD v2: 2-73868082-C-T
• gnomAD v4: 2-73640955-C-T
• MyVariant Identifiers: chr2:g.73868082C>T (hg19) ; chr2:g.73640955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640955C>T , CM000664.2:g.73640955C>T	GRCh38
NC_000002.11:g.73868082C>T , CM000664.1:g.73868082C>T	GRCh37
NC_000002.10:g.73721590C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.674G>A MANE Select	ENSP00000272425.3:p.Gly225Glu
ENST00000272425.3:c.674G>A	ENSP00000272425.3:p.Gly225Glu
NM_003960.3:c.674G>A	NP_003951.3:p.Gly225Glu
NM_003960.4:c.674G>A MANE Select	NP_003951.3:p.Gly225Glu