Canonical Allele Identifier: CA173519914
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs879610883
gnomAD v4: 8-18400354-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400354G>A , CM000670.2:g.18400354G>A GRCh38
NC_000008.10:g.18257864G>A , CM000670.1:g.18257864G>A GRCh37
NC_000008.9:g.18302144G>A NCBI36
NG_012246.1:g.14110G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.351G>A MANE Select ENSP00000286479.3:p.Arg117=
ENST00000286479.3:c.351G>A ENSP00000286479.3:p.Arg117=
ENST00000520116.1:c.-40G>A ENSP00000428416.1:n.-40G>A
NM_000015.2:c.351G>A NP_000006.2:p.Arg117=
XM_011544358.1:c.351G>A XP_011542660.1:p.Arg117=
XM_017012938.1:c.351G>A XP_016868427.1:p.Arg117=
NM_000015.3:c.351G>A MANE Select NP_000006.2:p.Arg117=