Canonical Allele Identifier: CA173176764

Gene: NAT1

Linked Data

• dbSNP Id: rs1050789992
• gnomAD v3: 8-18210140-T-C
• gnomAD v4: 8-18210140-T-C
• MyVariant Identifiers: chr8:g.18067649T>C (hg19) ; chr8:g.18210140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18210140T>C , CM000670.2:g.18210140T>C	GRCh38
NC_000008.10:g.18067649T>C , CM000670.1:g.18067649T>C	GRCh37
NC_000008.9:g.18111929T>C	NCBI36
NG_012245.2:g.44679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307719.9:c.-126T>C MANE Select	ENSP00000307218.4:n.-126T>C
ENST00000307719.8:c.-126T>C	ENSP00000307218.4:n.-126T>C
ENST00000517441.5:n.267+185T>C
ENST00000517574.5:n.7T>C
ENST00000518029.5:c.-510T>C	ENSP00000428270.1:n.-510T>C
ENST00000541942.1:c.-276T>C	ENSP00000440900.1:n.-276T>C
NM_000662.7:c.-126T>C	NP_000653.3:n.-126T>C
NM_001160170.3:c.-660T>C	NP_001153642.1:n.-660T>C
NM_001160171.3:c.-510T>C	NP_001153643.1:n.-510T>C
NM_001160172.3:c.-431T>C	NP_001153644.1:n.-431T>C
NM_001160173.3:c.-276T>C	NP_001153645.1:n.-276T>C
NM_001160175.3:c.-208T>C	NP_001153647.1:n.-208T>C
NM_001160176.3:c.-58T>C	NP_001153648.1:n.-58T>C
NM_001160179.2:c.-86+185T>C	NP_001153651.1:n.-86+185T>C
NM_001291962.1:c.-18+185T>C	NP_001278891.1:n.-18+185T>C
XM_011544687.1:c.-592T>C	XP_011542989.1:n.-592T>C
XM_011544688.1:c.-442T>C	XP_011542990.1:n.-442T>C
XM_017013947.1:c.-552+185T>C	XP_016869436.1:n.-552+185T>C
NM_000662.8:c.-126T>C MANE Select	NP_000653.3:n.-126T>C
NM_001160170.4:c.-660T>C	NP_001153642.1:n.-660T>C
NM_001160171.4:c.-510T>C	NP_001153643.1:n.-510T>C
NM_001160172.4:c.-431T>C	NP_001153644.1:n.-431T>C
NM_001160175.4:c.-208T>C	NP_001153647.1:n.-208T>C
NM_001160176.4:c.-58T>C	NP_001153648.1:n.-58T>C
NM_001160179.3:c.-86+185T>C	NP_001153651.1:n.-86+185T>C
NM_001291962.2:c.-18+185T>C	NP_001278891.1:n.-18+185T>C
NM_001160173.4:c.-276T>C	NP_001153645.1:n.-276T>C