Canonical Allele Identifier: CA370636797

Gene: NAT2

Linked Data

• dbSNP Id: rs146801219
• gnomAD v4: 8-18400874-T-C
• MyVariant Identifiers: chr8:g.18258384T>C (hg19) ; chr8:g.18400874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400874T>C , CM000670.2:g.18400874T>C	GRCh38
NC_000008.10:g.18258384T>C , CM000670.1:g.18258384T>C	GRCh37
NC_000008.9:g.18302664T>C	NCBI36
NG_012246.1:g.14630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.871T>C MANE Select	ENSP00000286479.3:p.Ter291Gln
ENST00000286479.3:c.871T>C	ENSP00000286479.3:p.Ter291Gln
ENST00000520116.1:c.481T>C	ENSP00000428416.1:p.Ter161Gln
NM_000015.2:c.871T>C	NP_000006.2:p.Ter291Gln
XM_011544358.1:c.871T>C	XP_011542660.1:p.Ter291Gln
XM_017012938.1:c.871T>C	XP_016868427.1:p.Ter291Gln
NM_000015.3:c.871T>C MANE Select	NP_000006.2:p.Ter291Gln