Canonical Allele Identifier: CA347286435

Gene: NAT8

Linked Data

• dbSNP Id: rs1676382772
• gnomAD v3: 2-73641027-A-C
• gnomAD v4: 2-73641027-A-C
• MyVariant Identifiers: chr2:g.73868154A>C (hg19) ; chr2:g.73641027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641027A>C , CM000664.2:g.73641027A>C	GRCh38
NC_000002.11:g.73868154A>C , CM000664.1:g.73868154A>C	GRCh37
NC_000002.10:g.73721662A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.602T>G MANE Select	ENSP00000272425.3:p.Phe201Cys
ENST00000272425.3:c.602T>G	ENSP00000272425.3:p.Phe201Cys
NM_003960.3:c.602T>G	NP_003951.3:p.Phe201Cys
NM_003960.4:c.602T>G MANE Select	NP_003951.3:p.Phe201Cys