Canonical Allele Identifier: CA1715625

Gene: NAT8

Linked Data

• dbSNP Id: rs758553512
• ExAC: 2:73868071 A / C
• gnomAD v2: 2-73868071-A-C
• gnomAD v4: 2-73640944-A-C
• MyVariant Identifiers: chr2:g.73868071A>C (hg19) ; chr2:g.73640944A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640944A>C , CM000664.2:g.73640944A>C	GRCh38
NC_000002.11:g.73868071A>C , CM000664.1:g.73868071A>C	GRCh37
NC_000002.10:g.73721579A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*1T>G MANE Select	ENSP00000272425.3:n.*1T>G
ENST00000272425.3:c.*1T>G	ENSP00000272425.3:n.*1T>G
NM_003960.3:c.*1T>G	NP_003951.3:n.*1T>G
NM_003960.4:c.*1T>G MANE Select	NP_003951.3:n.*1T>G