Canonical Allele Identifier: CA370635691
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400353-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400353G>A , CM000670.2:g.18400353G>A GRCh38
NC_000008.10:g.18257863G>A , CM000670.1:g.18257863G>A GRCh37
NC_000008.9:g.18302143G>A NCBI36
NG_012246.1:g.14109G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.350G>A MANE Select ENSP00000286479.3:p.Arg117Lys
ENST00000286479.3:c.350G>A ENSP00000286479.3:p.Arg117Lys
ENST00000520116.1:c.-41G>A ENSP00000428416.1:n.-41G>A
NM_000015.2:c.350G>A NP_000006.2:p.Arg117Lys
XM_011544358.1:c.350G>A XP_011542660.1:p.Arg117Lys
XM_017012938.1:c.350G>A XP_016868427.1:p.Arg117Lys
NM_000015.3:c.350G>A MANE Select NP_000006.2:p.Arg117Lys