Canonical Allele Identifier: CA347285956

Gene: NAT8

Linked Data

• gnomAD v4: 2-73640945-T-C
• MyVariant Identifiers: chr2:g.73868072T>C (hg19) ; chr2:g.73640945T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640945T>C , CM000664.2:g.73640945T>C	GRCh38
NC_000002.11:g.73868072T>C , CM000664.1:g.73868072T>C	GRCh37
NC_000002.10:g.73721580T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.684A>G MANE Select	ENSP00000272425.3:p.Ter228Trp
ENST00000272425.3:c.684A>G	ENSP00000272425.3:p.Ter228Trp
NM_003960.3:c.684A>G	NP_003951.3:p.Ter228Trp
NM_003960.4:c.684A>G MANE Select	NP_003951.3:p.Ter228Trp