Canonical Allele Identifier: CA534125745

Gene: NAT8

Linked Data

• dbSNP Id: rs1558725923
• gnomAD v2: 2-73868071-A-AT
• gnomAD v4: 2-73640944-A-AT
• MyVariant Identifiers: chr2:g.73868071_73868072insT (hg19) ; chr2:g.73640944_73640945insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640945dup , CM000664.2:g.73640945dup	GRCh38
NC_000002.11:g.73868072dup , CM000664.1:g.73868072dup	GRCh37
NC_000002.10:g.73721580dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.684dup MANE Select	ENSP00000272425.3:n.684dup
ENST00000272425.3:c.684dup	ENSP00000272425.3:n.684dup
NM_003960.3:c.684dup	NP_003951.3:n.684dup
NM_003960.4:c.684dup MANE Select	NP_003951.3:n.684dup