Canonical Allele Identifier: CA173176791

Gene: NAT1

Linked Data

• dbSNP Id: rs548835306
• gnomAD v2: 8-18067736-T-C
• gnomAD v3: 8-18210227-T-C
• gnomAD v4: 8-18210227-T-C
• MyVariant Identifiers: chr8:g.18067736T>C (hg19) ; chr8:g.18210227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18210227T>C , CM000670.2:g.18210227T>C	GRCh38
NC_000008.10:g.18067736T>C , CM000670.1:g.18067736T>C	GRCh37
NC_000008.9:g.18112016T>C	NCBI36
NG_012245.2:g.44766T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307719.9:c.-86+47T>C MANE Select	ENSP00000307218.4:n.-86+47T>C
ENST00000307719.8:c.-86+47T>C	ENSP00000307218.4:n.-86+47T>C
ENST00000517441.5:n.267+272T>C
ENST00000517574.5:n.47+47T>C
ENST00000518029.5:c.-470+47T>C	ENSP00000428270.1:n.-470+47T>C
ENST00000541942.1:c.-236+47T>C	ENSP00000440900.1:n.-236+47T>C
NM_000662.7:c.-86+47T>C	NP_000653.3:n.-86+47T>C
NM_001160170.3:c.-620+47T>C	NP_001153642.1:n.-620+47T>C
NM_001160171.3:c.-470+47T>C	NP_001153643.1:n.-470+47T>C
NM_001160172.3:c.-391+47T>C	NP_001153644.1:n.-391+47T>C
NM_001160173.3:c.-236+47T>C	NP_001153645.1:n.-236+47T>C
NM_001160175.3:c.-168+47T>C	NP_001153647.1:n.-168+47T>C
NM_001160176.3:c.-18+47T>C	NP_001153648.1:n.-18+47T>C
NM_001160179.2:c.-86+272T>C	NP_001153651.1:n.-86+272T>C
NM_001291962.1:c.-18+272T>C	NP_001278891.1:n.-18+272T>C
XM_011544687.1:c.-552+47T>C	XP_011542989.1:n.-552+47T>C
XM_011544688.1:c.-402+47T>C	XP_011542990.1:n.-402+47T>C
XM_017013947.1:c.-552+272T>C	XP_016869436.1:n.-552+272T>C
NM_000662.8:c.-86+47T>C MANE Select	NP_000653.3:n.-86+47T>C
NM_001160170.4:c.-620+47T>C	NP_001153642.1:n.-620+47T>C
NM_001160171.4:c.-470+47T>C	NP_001153643.1:n.-470+47T>C
NM_001160172.4:c.-391+47T>C	NP_001153644.1:n.-391+47T>C
NM_001160175.4:c.-168+47T>C	NP_001153647.1:n.-168+47T>C
NM_001160176.4:c.-18+47T>C	NP_001153648.1:n.-18+47T>C
NM_001160179.3:c.-86+272T>C	NP_001153651.1:n.-86+272T>C
NM_001291962.2:c.-18+272T>C	NP_001278891.1:n.-18+272T>C
NM_001160173.4:c.-236+47T>C	NP_001153645.1:n.-236+47T>C