Canonical Allele Identifier: CA173176790

Gene: NAT1

Linked Data

• dbSNP Id: rs748568732
• gnomAD v3: 8-18210224-C-T
• gnomAD v4: 8-18210224-C-T
• MyVariant Identifiers: chr8:g.18067733C>T (hg19) ; chr8:g.18210224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18210224C>T , CM000670.2:g.18210224C>T	GRCh38
NC_000008.10:g.18067733C>T , CM000670.1:g.18067733C>T	GRCh37
NC_000008.9:g.18112013C>T	NCBI36
NG_012245.2:g.44763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307719.9:c.-86+44C>T MANE Select	ENSP00000307218.4:n.-86+44C>T
ENST00000307719.8:c.-86+44C>T	ENSP00000307218.4:n.-86+44C>T
ENST00000517441.5:n.267+269C>T
ENST00000517574.5:n.47+44C>T
ENST00000518029.5:c.-470+44C>T	ENSP00000428270.1:n.-470+44C>T
ENST00000541942.1:c.-236+44C>T	ENSP00000440900.1:n.-236+44C>T
NM_000662.7:c.-86+44C>T	NP_000653.3:n.-86+44C>T
NM_001160170.3:c.-620+44C>T	NP_001153642.1:n.-620+44C>T
NM_001160171.3:c.-470+44C>T	NP_001153643.1:n.-470+44C>T
NM_001160172.3:c.-391+44C>T	NP_001153644.1:n.-391+44C>T
NM_001160173.3:c.-236+44C>T	NP_001153645.1:n.-236+44C>T
NM_001160175.3:c.-168+44C>T	NP_001153647.1:n.-168+44C>T
NM_001160176.3:c.-18+44C>T	NP_001153648.1:n.-18+44C>T
NM_001160179.2:c.-86+269C>T	NP_001153651.1:n.-86+269C>T
NM_001291962.1:c.-18+269C>T	NP_001278891.1:n.-18+269C>T
XM_011544687.1:c.-552+44C>T	XP_011542989.1:n.-552+44C>T
XM_011544688.1:c.-402+44C>T	XP_011542990.1:n.-402+44C>T
XM_017013947.1:c.-552+269C>T	XP_016869436.1:n.-552+269C>T
NM_000662.8:c.-86+44C>T MANE Select	NP_000653.3:n.-86+44C>T
NM_001160170.4:c.-620+44C>T	NP_001153642.1:n.-620+44C>T
NM_001160171.4:c.-470+44C>T	NP_001153643.1:n.-470+44C>T
NM_001160172.4:c.-391+44C>T	NP_001153644.1:n.-391+44C>T
NM_001160175.4:c.-168+44C>T	NP_001153647.1:n.-168+44C>T
NM_001160176.4:c.-18+44C>T	NP_001153648.1:n.-18+44C>T
NM_001160179.3:c.-86+269C>T	NP_001153651.1:n.-86+269C>T
NM_001291962.2:c.-18+269C>T	NP_001278891.1:n.-18+269C>T
NM_001160173.4:c.-236+44C>T	NP_001153645.1:n.-236+44C>T