Canonical Allele Identifier: CA4651549

Gene: NAT2

Linked Data

• dbSNP Id: rs138592670
• ExAC: 8:18257611 G / A
• gnomAD v2: 8-18257611-G-A
• gnomAD v3: 8-18400101-G-A
• gnomAD v4: 8-18400101-G-A
• COSMIC: COSM3929474
• MyVariant Identifiers: chr8:g.18257611G>A (hg19) ; chr8:g.18400101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400101G>A , CM000670.2:g.18400101G>A	GRCh38
NC_000008.10:g.18257611G>A , CM000670.1:g.18257611G>A	GRCh37
NC_000008.9:g.18301891G>A	NCBI36
NG_012246.1:g.13857G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.98G>A MANE Select	ENSP00000286479.3:p.Arg33Gln
ENST00000286479.3:c.98G>A	ENSP00000286479.3:p.Arg33Gln
ENST00000520116.1:c.-57-236G>A	ENSP00000428416.1:n.-57-236G>A
NM_000015.2:c.98G>A	NP_000006.2:p.Arg33Gln
XM_011544358.1:c.98G>A	XP_011542660.1:p.Arg33Gln
XM_017012938.1:c.98G>A	XP_016868427.1:p.Arg33Gln
NM_000015.3:c.98G>A MANE Select	NP_000006.2:p.Arg33Gln