Canonical Allele Identifier: CA4651392

Gene: NAT1

Linked Data

• dbSNP Id: rs759800046
• ExAC: 8:18079935 C / T
• gnomAD v2: 8-18079935-C-T
• gnomAD v3: 8-18222426-C-T
• gnomAD v4: 8-18222426-C-T
• COSMIC: COSM5689787 ; COSM5689788
• MyVariant Identifiers: chr8:g.18079935C>T (hg19) ; chr8:g.18222426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18222426C>T , CM000670.2:g.18222426C>T	GRCh38
NC_000008.10:g.18079935C>T , CM000670.1:g.18079935C>T	GRCh37
NC_000008.9:g.18124215C>T	NCBI36
NG_012245.2:g.56965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307719.9:c.379C>T MANE Select	ENSP00000307218.4:p.Arg127Cys
ENST00000545197.3:c.565C>T	ENSP00000443194.1:p.Arg189Cys
ENST00000307719.8:c.379C>T	ENSP00000307218.4:p.Arg127Cys
ENST00000517441.5:n.731C>T
ENST00000517492.5:c.379C>T	ENSP00000429407.1:p.Arg127Cys
ENST00000518029.5:c.379C>T	ENSP00000428270.1:p.Arg127Cys
ENST00000520546.1:c.379C>T	ENSP00000429341.1:p.Arg127Cys
ENST00000541942.1:c.379C>T	ENSP00000440900.1:p.Arg127Cys
ENST00000545197.2:c.565C>T	ENSP00000443194.1:p.Arg189Cys
NM_000662.7:c.379C>T	NP_000653.3:p.Arg127Cys
NM_001160170.3:c.379C>T	NP_001153642.1:p.Arg127Cys
NM_001160171.3:c.379C>T	NP_001153643.1:p.Arg127Cys
NM_001160172.3:c.379C>T	NP_001153644.1:p.Arg127Cys
NM_001160173.3:c.379C>T	NP_001153645.1:p.Arg127Cys
NM_001160174.2:c.379C>T	NP_001153646.1:p.Arg127Cys
NM_001160175.3:c.565C>T	NP_001153647.1:p.Arg189Cys
NM_001160176.3:c.565C>T	NP_001153648.1:p.Arg189Cys
NM_001160179.2:c.379C>T	NP_001153651.1:p.Arg127Cys
NM_001291962.1:c.565C>T	NP_001278891.1:p.Arg189Cys
XM_006716410.2:c.379C>T	XP_006716473.1:p.Arg127Cys
XM_011544687.1:c.565C>T	XP_011542989.1:p.Arg189Cys
XM_011544688.1:c.565C>T	XP_011542990.1:p.Arg189Cys
XM_011544689.1:c.379C>T	XP_011542991.1:p.Arg127Cys
XM_006716410.3:c.379C>T	XP_006716473.1:p.Arg127Cys
XM_011544689.2:c.379C>T	XP_011542991.1:p.Arg127Cys
XM_017013947.1:c.565C>T	XP_016869436.1:p.Arg189Cys
NM_000662.8:c.379C>T MANE Select	NP_000653.3:p.Arg127Cys
NM_001160170.4:c.379C>T	NP_001153642.1:p.Arg127Cys
NM_001160171.4:c.379C>T	NP_001153643.1:p.Arg127Cys
NM_001160172.4:c.379C>T	NP_001153644.1:p.Arg127Cys
NM_001160175.4:c.565C>T	NP_001153647.1:p.Arg189Cys
NM_001160176.4:c.565C>T	NP_001153648.1:p.Arg189Cys
NM_001160179.3:c.379C>T	NP_001153651.1:p.Arg127Cys
NM_001291962.2:c.565C>T	NP_001278891.1:p.Arg189Cys
NM_001160173.4:c.379C>T	NP_001153645.1:p.Arg127Cys
NM_001160174.3:c.379C>T	NP_001153646.1:p.Arg127Cys