Canonical Allele Identifier: CA347286080

Gene: NAT8

Linked Data

• dbSNP Id: rs1558725966
• gnomAD v4: 2-73640977-G-A
• MyVariant Identifiers: chr2:g.73868104G>A (hg19) ; chr2:g.73640977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640977G>A , CM000664.2:g.73640977G>A	GRCh38
NC_000002.11:g.73868104G>A , CM000664.1:g.73868104G>A	GRCh37
NC_000002.10:g.73721612G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.652C>T MANE Select	ENSP00000272425.3:p.His218Tyr
ENST00000272425.3:c.652C>T	ENSP00000272425.3:p.His218Tyr
NM_003960.3:c.652C>T	NP_003951.3:p.His218Tyr
NM_003960.4:c.652C>T MANE Select	NP_003951.3:p.His218Tyr