Canonical Allele Identifier: CA1715631

Gene: NAT8

Linked Data

• dbSNP Id: rs1062873
• ExAC: 2:73868080 T / G
• gnomAD v2: 2-73868080-T-G
• gnomAD v4: 2-73640953-T-G
• MyVariant Identifiers: chr2:g.73868080T>G (hg19) ; chr2:g.73640953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640953T>G , CM000664.2:g.73640953T>G	GRCh38
NC_000002.11:g.73868080T>G , CM000664.1:g.73868080T>G	GRCh37
NC_000002.10:g.73721588T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.676A>C MANE Select	ENSP00000272425.3:p.Ser226Arg
ENST00000272425.3:c.676A>C	ENSP00000272425.3:p.Ser226Arg
NM_003960.3:c.676A>C	NP_003951.3:p.Ser226Arg
NM_003960.4:c.676A>C MANE Select	NP_003951.3:p.Ser226Arg