Canonical Allele Identifier: CA1715633

Gene: NAT8

Linked Data

• dbSNP Id: rs747807178
• ExAC: 2:73868086 C / T
• gnomAD v2: 2-73868086-C-T
• gnomAD v3: 2-73640959-C-T
• gnomAD v4: 2-73640959-C-T
• MyVariant Identifiers: chr2:g.73868086C>T (hg19) ; chr2:g.73640959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640959C>T , CM000664.2:g.73640959C>T	GRCh38
NC_000002.11:g.73868086C>T , CM000664.1:g.73868086C>T	GRCh37
NC_000002.10:g.73721594C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.670G>A MANE Select	ENSP00000272425.3:p.Val224Ile
ENST00000272425.3:c.670G>A	ENSP00000272425.3:p.Val224Ile
NM_003960.3:c.670G>A	NP_003951.3:p.Val224Ile
NM_003960.4:c.670G>A MANE Select	NP_003951.3:p.Val224Ile