Canonical Allele Identifier: CA4651712
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs56054745
gnomAD v2: 8-18258358-A-G
gnomAD v3: 8-18400848-A-G
gnomAD v4: 8-18400848-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400848A>G , CM000670.2:g.18400848A>G GRCh38
NC_000008.10:g.18258358A>G , CM000670.1:g.18258358A>G GRCh37
NC_000008.9:g.18302638A>G NCBI36
NG_012246.1:g.14604A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.845A>G MANE Select ENSP00000286479.3:p.Lys282Arg
ENST00000286479.3:c.845A>G ENSP00000286479.3:p.Lys282Arg
ENST00000520116.1:c.455A>G ENSP00000428416.1:p.Lys152Arg
NM_000015.2:c.845A>G NP_000006.2:p.Lys282Arg
XM_011544358.1:c.845A>G XP_011542660.1:p.Lys282Arg
XM_017012938.1:c.845A>G XP_016868427.1:p.Lys282Arg
NM_000015.3:c.845A>G MANE Select NP_000006.2:p.Lys282Arg