Canonical Allele Identifier: CA347286012

Gene: NAT8

Linked Data

• gnomAD v4: 2-73640959-C-A
• MyVariant Identifiers: chr2:g.73868086C>A (hg19) ; chr2:g.73640959C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.670G>T MANE Select	ENSP00000272425.3:p.Val224Leu
ENST00000272425.3:c.670G>T	ENSP00000272425.3:p.Val224Leu
NM_003960.3:c.670G>T	NP_003951.3:p.Val224Leu
NM_003960.4:c.670G>T MANE Select	NP_003951.3:p.Val224Leu