Canonical Allele Identifier: CA1111423595
Gene: NAT1 HGNC NCBI

Linked Data

dbSNP Id: rs765157608
gnomAD v3: 8-18210137-G-A
gnomAD v4: 8-18210137-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18210137G>A , CM000670.2:g.18210137G>A GRCh38
NC_000008.10:g.18067646G>A , CM000670.1:g.18067646G>A GRCh37
NC_000008.9:g.18111926G>A NCBI36
NG_012245.2:g.44676G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307719.9:c.-129G>A MANE Select ENSP00000307218.4:n.-129G>A
ENST00000307719.8:c.-129G>A ENSP00000307218.4:n.-129G>A
ENST00000517441.5:n.267+182G>A
ENST00000517574.5:n.4G>A
ENST00000518029.5:c.-513G>A ENSP00000428270.1:n.-513G>A
ENST00000541942.1:c.-279G>A ENSP00000440900.1:n.-279G>A
NM_000662.7:c.-129G>A NP_000653.3:n.-129G>A
NM_001160170.3:c.-663G>A NP_001153642.1:n.-663G>A
NM_001160171.3:c.-513G>A NP_001153643.1:n.-513G>A
NM_001160172.3:c.-434G>A NP_001153644.1:n.-434G>A
NM_001160173.3:c.-279G>A NP_001153645.1:n.-279G>A
NM_001160175.3:c.-211G>A NP_001153647.1:n.-211G>A
NM_001160176.3:c.-61G>A NP_001153648.1:n.-61G>A
NM_001160179.2:c.-86+182G>A NP_001153651.1:n.-86+182G>A
NM_001291962.1:c.-18+182G>A NP_001278891.1:n.-18+182G>A
XM_011544687.1:c.-595G>A XP_011542989.1:n.-595G>A
XM_011544688.1:c.-445G>A XP_011542990.1:n.-445G>A
XM_017013947.1:c.-552+182G>A XP_016869436.1:n.-552+182G>A
NM_000662.8:c.-129G>A MANE Select NP_000653.3:n.-129G>A
NM_001160170.4:c.-663G>A NP_001153642.1:n.-663G>A
NM_001160171.4:c.-513G>A NP_001153643.1:n.-513G>A
NM_001160172.4:c.-434G>A NP_001153644.1:n.-434G>A
NM_001160175.4:c.-211G>A NP_001153647.1:n.-211G>A
NM_001160176.4:c.-61G>A NP_001153648.1:n.-61G>A
NM_001160179.3:c.-86+182G>A NP_001153651.1:n.-86+182G>A
NM_001291962.2:c.-18+182G>A NP_001278891.1:n.-18+182G>A
NM_001160173.4:c.-279G>A NP_001153645.1:n.-279G>A