Canonical Allele Identifier: CA50370753

Gene: NAT8

Linked Data

• dbSNP Id: rs879241209
• gnomAD v4: 2-73640839-A-G
• MyVariant Identifiers: chr2:g.73867966A>G (hg19) ; chr2:g.73640839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640839A>G , CM000664.2:g.73640839A>G	GRCh38
NC_000002.11:g.73867966A>G , CM000664.1:g.73867966A>G	GRCh37
NC_000002.10:g.73721474A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*106T>C MANE Select	ENSP00000272425.3:n.*106T>C
ENST00000272425.3:c.*106T>C	ENSP00000272425.3:n.*106T>C
NM_003960.3:c.*106T>C	NP_003951.3:n.*106T>C
NM_003960.4:c.*106T>C MANE Select	NP_003951.3:n.*106T>C