Canonical Allele Identifier: CA1715635

Gene: NAT8

Linked Data

• dbSNP Id: rs772984681
• ExAC: 2:73868098 G / C
• gnomAD v2: 2-73868098-G-C
• gnomAD v4: 2-73640971-G-C
• MyVariant Identifiers: chr2:g.73868098G>C (hg19) ; chr2:g.73640971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640971G>C , CM000664.2:g.73640971G>C	GRCh38
NC_000002.11:g.73868098G>C , CM000664.1:g.73868098G>C	GRCh37
NC_000002.10:g.73721606G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.658C>G MANE Select	ENSP00000272425.3:p.Pro220Ala
ENST00000272425.3:c.658C>G	ENSP00000272425.3:p.Pro220Ala
NM_003960.3:c.658C>G	NP_003951.3:p.Pro220Ala
NM_003960.4:c.658C>G MANE Select	NP_003951.3:p.Pro220Ala