Canonical Allele Identifier: CA2579103954
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400932-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400932C>A , CM000670.2:g.18400932C>A GRCh38
NC_000008.10:g.18258442C>A , CM000670.1:g.18258442C>A GRCh37
NC_000008.9:g.18302722C>A NCBI36
NG_012246.1:g.14688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.*56C>A MANE Select ENSP00000286479.3:n.*56C>A
ENST00000286479.3:c.*56C>A ENSP00000286479.3:n.*56C>A
ENST00000520116.1:c.*56C>A ENSP00000428416.1:n.*56C>A
NM_000015.2:c.*56C>A NP_000006.2:n.*56C>A
XM_011544358.1:c.*56C>A XP_011542660.1:n.*56C>A
XM_017012938.1:c.*56C>A XP_016868427.1:n.*56C>A
NM_000015.3:c.*56C>A MANE Select NP_000006.2:n.*56C>A