Canonical Allele Identifier: CA370636603
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1304162037
gnomAD v4: 8-18400779-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400779C>T , CM000670.2:g.18400779C>T GRCh38
NC_000008.10:g.18258289C>T , CM000670.1:g.18258289C>T GRCh37
NC_000008.9:g.18302569C>T NCBI36
NG_012246.1:g.14535C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.776C>T MANE Select ENSP00000286479.3:p.Thr259Ile
ENST00000286479.3:c.776C>T ENSP00000286479.3:p.Thr259Ile
ENST00000520116.1:c.386C>T ENSP00000428416.1:p.Thr129Ile
NM_000015.2:c.776C>T NP_000006.2:p.Thr259Ile
XM_011544358.1:c.776C>T XP_011542660.1:p.Thr259Ile
XM_017012938.1:c.776C>T XP_016868427.1:p.Thr259Ile
NM_000015.3:c.776C>T MANE Select NP_000006.2:p.Thr259Ile