Canonical Allele Identifier: CA533687780

Gene: NAT8

Linked Data

• dbSNP Id: rs1375719078
• gnomAD v2: 2-73867955-G-C
• gnomAD v3: 2-73640828-G-C
• gnomAD v4: 2-73640828-G-C
• MyVariant Identifiers: chr2:g.73867955G>C (hg19) ; chr2:g.73640828G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640828G>C , CM000664.2:g.73640828G>C	GRCh38
NC_000002.11:g.73867955G>C , CM000664.1:g.73867955G>C	GRCh37
NC_000002.10:g.73721463G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*117C>G MANE Select	ENSP00000272425.3:n.*117C>G
NM_003960.3:c.*117C>G	NP_003951.3:n.*117C>G
NM_003960.4:c.*117C>G MANE Select	NP_003951.3:n.*117C>G