Canonical Allele Identifier: CA4651622

Gene: NAT2

Linked Data

• dbSNP Id: rs746108115
• ExAC: 8:18257942 G / A
• gnomAD v2: 8-18257942-G-A
• gnomAD v3: 8-18400432-G-A
• gnomAD v4: 8-18400432-G-A
• MyVariant Identifiers: chr8:g.18257942G>A (hg19) ; chr8:g.18400432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400432G>A , CM000670.2:g.18400432G>A	GRCh38
NC_000008.10:g.18257942G>A , CM000670.1:g.18257942G>A	GRCh37
NC_000008.9:g.18302222G>A	NCBI36
NG_012246.1:g.14188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.429G>A MANE Select	ENSP00000286479.3:p.Gln143=
ENST00000286479.3:c.429G>A	ENSP00000286479.3:p.Gln143=
ENST00000520116.1:c.39G>A	ENSP00000428416.1:p.Gln13=
NM_000015.2:c.429G>A	NP_000006.2:p.Gln143=
XM_011544358.1:c.429G>A	XP_011542660.1:p.Gln143=
XM_017012938.1:c.429G>A	XP_016868427.1:p.Gln143=
NM_000015.3:c.429G>A MANE Select	NP_000006.2:p.Gln143=