Canonical Allele Identifier: CA4651604
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs4986996
gnomAD v2: 8-18257877-G-A
gnomAD v3: 8-18400367-G-A
gnomAD v4: 8-18400367-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400367G>A , CM000670.2:g.18400367G>A GRCh38
NC_000008.10:g.18257877G>A , CM000670.1:g.18257877G>A GRCh37
NC_000008.9:g.18302157G>A NCBI36
NG_012246.1:g.14123G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.364G>A MANE Select ENSP00000286479.3:p.Asp122Asn
ENST00000286479.3:c.364G>A ENSP00000286479.3:p.Asp122Asn
ENST00000520116.1:c.-27G>A ENSP00000428416.1:n.-27G>A
NM_000015.2:c.364G>A NP_000006.2:p.Asp122Asn
XM_011544358.1:c.364G>A XP_011542660.1:p.Asp122Asn
XM_017012938.1:c.364G>A XP_016868427.1:p.Asp122Asn
NM_000015.3:c.364G>A MANE Select NP_000006.2:p.Asp122Asn