Canonical Allele Identifier: CA2686323628

Gene: NAT1

Linked Data

• gnomAD v4: 8-18210133-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18210133G>A , CM000670.2:g.18210133G>A	GRCh38
NC_000008.10:g.18067642G>A , CM000670.1:g.18067642G>A	GRCh37
NC_000008.9:g.18111922G>A	NCBI36
NG_012245.2:g.44672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307719.9:c.-133G>A MANE Select	ENSP00000307218.4:n.-133G>A
ENST00000307719.8:c.-133G>A	ENSP00000307218.4:n.-133G>A
ENST00000517441.5:n.267+178G>A
ENST00000518029.5:c.-517G>A	ENSP00000428270.1:n.-517G>A
ENST00000541942.1:c.-283G>A	ENSP00000440900.1:n.-283G>A
NM_000662.7:c.-133G>A	NP_000653.3:n.-133G>A
NM_001160170.3:c.-667G>A	NP_001153642.1:n.-667G>A
NM_001160171.3:c.-517G>A	NP_001153643.1:n.-517G>A
NM_001160172.3:c.-438G>A	NP_001153644.1:n.-438G>A
NM_001160173.3:c.-283G>A	NP_001153645.1:n.-283G>A
NM_001160175.3:c.-215G>A	NP_001153647.1:n.-215G>A
NM_001160176.3:c.-65G>A	NP_001153648.1:n.-65G>A
NM_001160179.2:c.-86+178G>A	NP_001153651.1:n.-86+178G>A
NM_001291962.1:c.-18+178G>A	NP_001278891.1:n.-18+178G>A
XM_011544687.1:c.-599G>A	XP_011542989.1:n.-599G>A
XM_011544688.1:c.-449G>A	XP_011542990.1:n.-449G>A
XM_017013947.1:c.-552+178G>A	XP_016869436.1:n.-552+178G>A
NM_000662.8:c.-133G>A MANE Select	NP_000653.3:n.-133G>A
NM_001160170.4:c.-667G>A	NP_001153642.1:n.-667G>A
NM_001160171.4:c.-517G>A	NP_001153643.1:n.-517G>A
NM_001160172.4:c.-438G>A	NP_001153644.1:n.-438G>A
NM_001160175.4:c.-215G>A	NP_001153647.1:n.-215G>A
NM_001160176.4:c.-65G>A	NP_001153648.1:n.-65G>A
NM_001160179.3:c.-86+178G>A	NP_001153651.1:n.-86+178G>A
NM_001291962.2:c.-18+178G>A	NP_001278891.1:n.-18+178G>A
NM_001160173.4:c.-283G>A	NP_001153645.1:n.-283G>A