Canonical Allele Identifier: CA2686323654
Gene: NAT1 HGNC NCBI

Linked Data

gnomAD v4: 8-18210203-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18210203C>A , CM000670.2:g.18210203C>A GRCh38
NC_000008.10:g.18067712C>A , CM000670.1:g.18067712C>A GRCh37
NC_000008.9:g.18111992C>A NCBI36
NG_012245.2:g.44742C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307719.9:c.-86+23C>A MANE Select ENSP00000307218.4:n.-86+23C>A
ENST00000307719.8:c.-86+23C>A ENSP00000307218.4:n.-86+23C>A
ENST00000517441.5:n.267+248C>A
ENST00000517574.5:n.47+23C>A
ENST00000518029.5:c.-470+23C>A ENSP00000428270.1:n.-470+23C>A
ENST00000541942.1:c.-236+23C>A ENSP00000440900.1:n.-236+23C>A
NM_000662.7:c.-86+23C>A NP_000653.3:n.-86+23C>A
NM_001160170.3:c.-620+23C>A NP_001153642.1:n.-620+23C>A
NM_001160171.3:c.-470+23C>A NP_001153643.1:n.-470+23C>A
NM_001160172.3:c.-391+23C>A NP_001153644.1:n.-391+23C>A
NM_001160173.3:c.-236+23C>A NP_001153645.1:n.-236+23C>A
NM_001160175.3:c.-168+23C>A NP_001153647.1:n.-168+23C>A
NM_001160176.3:c.-18+23C>A NP_001153648.1:n.-18+23C>A
NM_001160179.2:c.-86+248C>A NP_001153651.1:n.-86+248C>A
NM_001291962.1:c.-18+248C>A NP_001278891.1:n.-18+248C>A
XM_011544687.1:c.-552+23C>A XP_011542989.1:n.-552+23C>A
XM_011544688.1:c.-402+23C>A XP_011542990.1:n.-402+23C>A
XM_017013947.1:c.-552+248C>A XP_016869436.1:n.-552+248C>A
NM_000662.8:c.-86+23C>A MANE Select NP_000653.3:n.-86+23C>A
NM_001160170.4:c.-620+23C>A NP_001153642.1:n.-620+23C>A
NM_001160171.4:c.-470+23C>A NP_001153643.1:n.-470+23C>A
NM_001160172.4:c.-391+23C>A NP_001153644.1:n.-391+23C>A
NM_001160175.4:c.-168+23C>A NP_001153647.1:n.-168+23C>A
NM_001160176.4:c.-18+23C>A NP_001153648.1:n.-18+23C>A
NM_001160179.3:c.-86+248C>A NP_001153651.1:n.-86+248C>A
NM_001291962.2:c.-18+248C>A NP_001278891.1:n.-18+248C>A
NM_001160173.4:c.-236+23C>A NP_001153645.1:n.-236+23C>A