Canonical Allele Identifier: CA50370790

Gene: NAT8

Linked Data

• dbSNP Id: rs1062879
• gnomAD v3: 2-73640876-G-C
• gnomAD v4: 2-73640876-G-C
• MyVariant Identifiers: chr2:g.73868003G>C (hg19) ; chr2:g.73640876G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640876G>C , CM000664.2:g.73640876G>C	GRCh38
NC_000002.11:g.73868003G>C , CM000664.1:g.73868003G>C	GRCh37
NC_000002.10:g.73721511G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*69C>G MANE Select	ENSP00000272425.3:n.*69C>G
ENST00000272425.3:c.*69C>G	ENSP00000272425.3:n.*69C>G
NM_003960.3:c.*69C>G	NP_003951.3:n.*69C>G
NM_003960.4:c.*69C>G MANE Select	NP_003951.3:n.*69C>G