Canonical Allele Identifier: CA370635473
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400248T>C , CM000670.2:g.18400248T>C GRCh38
NC_000008.10:g.18257758T>C , CM000670.1:g.18257758T>C GRCh37
NC_000008.9:g.18302038T>C NCBI36
NG_012246.1:g.14004T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.245T>C MANE Select ENSP00000286479.3:p.Ile82Thr
ENST00000286479.3:c.245T>C ENSP00000286479.3:p.Ile82Thr
ENST00000520116.1:c.-57-89T>C ENSP00000428416.1:n.-57-89T>C
NM_000015.2:c.245T>C NP_000006.2:p.Ile82Thr
XM_011544358.1:c.245T>C XP_011542660.1:p.Ile82Thr
XM_017012938.1:c.245T>C XP_016868427.1:p.Ile82Thr
NM_000015.3:c.245T>C MANE Select NP_000006.2:p.Ile82Thr