Canonical Allele Identifier: CA173176768

Gene: NAT1

Linked Data

• dbSNP Id: rs927100356
• gnomAD v2: 8-18067657-G-A
• gnomAD v3: 8-18210148-G-A
• gnomAD v4: 8-18210148-G-A
• MyVariant Identifiers: chr8:g.18067657G>A (hg19) ; chr8:g.18210148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18210148G>A , CM000670.2:g.18210148G>A	GRCh38
NC_000008.10:g.18067657G>A , CM000670.1:g.18067657G>A	GRCh37
NC_000008.9:g.18111937G>A	NCBI36
NG_012245.2:g.44687G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307719.9:c.-118G>A MANE Select	ENSP00000307218.4:n.-118G>A
ENST00000307719.8:c.-118G>A	ENSP00000307218.4:n.-118G>A
ENST00000517441.5:n.267+193G>A
ENST00000517574.5:n.15G>A
ENST00000518029.5:c.-502G>A	ENSP00000428270.1:n.-502G>A
ENST00000541942.1:c.-268G>A	ENSP00000440900.1:n.-268G>A
NM_000662.7:c.-118G>A	NP_000653.3:n.-118G>A
NM_001160170.3:c.-652G>A	NP_001153642.1:n.-652G>A
NM_001160171.3:c.-502G>A	NP_001153643.1:n.-502G>A
NM_001160172.3:c.-423G>A	NP_001153644.1:n.-423G>A
NM_001160173.3:c.-268G>A	NP_001153645.1:n.-268G>A
NM_001160175.3:c.-200G>A	NP_001153647.1:n.-200G>A
NM_001160176.3:c.-50G>A	NP_001153648.1:n.-50G>A
NM_001160179.2:c.-86+193G>A	NP_001153651.1:n.-86+193G>A
NM_001291962.1:c.-18+193G>A	NP_001278891.1:n.-18+193G>A
XM_011544687.1:c.-584G>A	XP_011542989.1:n.-584G>A
XM_011544688.1:c.-434G>A	XP_011542990.1:n.-434G>A
XM_017013947.1:c.-552+193G>A	XP_016869436.1:n.-552+193G>A
NM_000662.8:c.-118G>A MANE Select	NP_000653.3:n.-118G>A
NM_001160170.4:c.-652G>A	NP_001153642.1:n.-652G>A
NM_001160171.4:c.-502G>A	NP_001153643.1:n.-502G>A
NM_001160172.4:c.-423G>A	NP_001153644.1:n.-423G>A
NM_001160175.4:c.-200G>A	NP_001153647.1:n.-200G>A
NM_001160176.4:c.-50G>A	NP_001153648.1:n.-50G>A
NM_001160179.3:c.-86+193G>A	NP_001153651.1:n.-86+193G>A
NM_001291962.2:c.-18+193G>A	NP_001278891.1:n.-18+193G>A
NM_001160173.4:c.-268G>A	NP_001153645.1:n.-268G>A