Canonical Allele Identifier: CA892866952

Gene: NAT8

Linked Data

• dbSNP Id: rs1309639568
• gnomAD v4: 2-73640925-C-T
• MyVariant Identifiers: chr2:g.73868052C>T (hg19) ; chr2:g.73640925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640925C>T , CM000664.2:g.73640925C>T	GRCh38
NC_000002.11:g.73868052C>T , CM000664.1:g.73868052C>T	GRCh37
NC_000002.10:g.73721560C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*20G>A MANE Select	ENSP00000272425.3:n.*20G>A
ENST00000272425.3:c.*20G>A	ENSP00000272425.3:n.*20G>A
NM_003960.3:c.*20G>A	NP_003951.3:n.*20G>A
NM_003960.4:c.*20G>A MANE Select	NP_003951.3:n.*20G>A