Canonical Allele Identifier: CA1715615

Gene: NAT8

Linked Data

• dbSNP Id: rs377751721
• ExAC: 2:73868024 T / C
• gnomAD v2: 2-73868024-T-C
• gnomAD v3: 2-73640897-T-C
• gnomAD v4: 2-73640897-T-C
• MyVariant Identifiers: chr2:g.73868024T>C (hg19) ; chr2:g.73640897T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640897T>C , CM000664.2:g.73640897T>C	GRCh38
NC_000002.11:g.73868024T>C , CM000664.1:g.73868024T>C	GRCh37
NC_000002.10:g.73721532T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*48A>G MANE Select	ENSP00000272425.3:n.*48A>G
ENST00000272425.3:c.*48A>G	ENSP00000272425.3:n.*48A>G
NM_003960.3:c.*48A>G	NP_003951.3:n.*48A>G
NM_003960.4:c.*48A>G MANE Select	NP_003951.3:n.*48A>G