Canonical Allele Identifier: CA1111451047

Gene: NAT2

Linked Data

• dbSNP Id: rs1800620093
• gnomAD v3: 8-18393299-A-G
• gnomAD v4: 8-18393299-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393299A>G , CM000670.2:g.18393299A>G	GRCh38
NC_000008.10:g.18250809A>G , CM000670.1:g.18250809A>G	GRCh37
NC_000008.9:g.18295089A>G	NCBI36
NG_012246.1:g.7055A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.-7+1954A>G MANE Select	ENSP00000286479.3:n.-7+1954A>G
ENST00000286479.3:c.-7+1954A>G	ENSP00000286479.3:n.-7+1954A>G
ENST00000520116.1:c.-58+1954A>G	ENSP00000428416.1:n.-58+1954A>G
NM_000015.2:c.-7+1954A>G	NP_000006.2:n.-7+1954A>G
XM_011544358.1:c.-7+563A>G	XP_011542660.1:n.-7+563A>G
XM_017012938.1:c.-7+6263A>G	XP_016868427.1:n.-7+6263A>G
NM_000015.3:c.-7+1954A>G MANE Select	NP_000006.2:n.-7+1954A>G