Canonical Allele Identifier: CA370635654
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400335-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400335A>C , CM000670.2:g.18400335A>C GRCh38
NC_000008.10:g.18257845A>C , CM000670.1:g.18257845A>C GRCh37
NC_000008.9:g.18302125A>C NCBI36
NG_012246.1:g.14091A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.332A>C MANE Select ENSP00000286479.3:p.Gln111Pro
ENST00000286479.3:c.332A>C ENSP00000286479.3:p.Gln111Pro
ENST00000520116.1:c.-57-2A>C ENSP00000428416.1:n.-57-2A>C
NM_000015.2:c.332A>C NP_000006.2:p.Gln111Pro
XM_011544358.1:c.332A>C XP_011542660.1:p.Gln111Pro
XM_017012938.1:c.332A>C XP_016868427.1:p.Gln111Pro
NM_000015.3:c.332A>C MANE Select NP_000006.2:p.Gln111Pro