Canonical Allele Identifier: CA173176759
Gene: NAT1 HGNC NCBI

Linked Data

dbSNP Id: rs899598542
gnomAD v3: 8-18210130-G-A
gnomAD v4: 8-18210130-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18210130G>A , CM000670.2:g.18210130G>A GRCh38
NC_000008.10:g.18067639G>A , CM000670.1:g.18067639G>A GRCh37
NC_000008.9:g.18111919G>A NCBI36
NG_012245.2:g.44669G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307719.9:c.-136G>A MANE Select ENSP00000307218.4:n.-136G>A
ENST00000307719.8:c.-136G>A ENSP00000307218.4:n.-136G>A
ENST00000517441.5:n.267+175G>A
ENST00000518029.5:c.-520G>A ENSP00000428270.1:n.-520G>A
ENST00000541942.1:c.-286G>A ENSP00000440900.1:n.-286G>A
NM_000662.7:c.-136G>A NP_000653.3:n.-136G>A
NM_001160170.3:c.-670G>A NP_001153642.1:n.-670G>A
NM_001160171.3:c.-520G>A NP_001153643.1:n.-520G>A
NM_001160172.3:c.-441G>A NP_001153644.1:n.-441G>A
NM_001160173.3:c.-286G>A NP_001153645.1:n.-286G>A
NM_001160175.3:c.-218G>A NP_001153647.1:n.-218G>A
NM_001160176.3:c.-68G>A NP_001153648.1:n.-68G>A
NM_001160179.2:c.-86+175G>A NP_001153651.1:n.-86+175G>A
NM_001291962.1:c.-18+175G>A NP_001278891.1:n.-18+175G>A
XM_011544687.1:c.-602G>A XP_011542989.1:n.-602G>A
XM_011544688.1:c.-452G>A XP_011542990.1:n.-452G>A
XM_017013947.1:c.-552+175G>A XP_016869436.1:n.-552+175G>A
NM_000662.8:c.-136G>A MANE Select NP_000653.3:n.-136G>A
NM_001160170.4:c.-670G>A NP_001153642.1:n.-670G>A
NM_001160171.4:c.-520G>A NP_001153643.1:n.-520G>A
NM_001160172.4:c.-441G>A NP_001153644.1:n.-441G>A
NM_001160175.4:c.-218G>A NP_001153647.1:n.-218G>A
NM_001160176.4:c.-68G>A NP_001153648.1:n.-68G>A
NM_001160179.3:c.-86+175G>A NP_001153651.1:n.-86+175G>A
NM_001291962.2:c.-18+175G>A NP_001278891.1:n.-18+175G>A
NM_001160173.4:c.-286G>A NP_001153645.1:n.-286G>A