Canonical Allele Identifier: CA370636442
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400703T>A , CM000670.2:g.18400703T>A GRCh38
NC_000008.10:g.18258213T>A , CM000670.1:g.18258213T>A GRCh37
NC_000008.9:g.18302493T>A NCBI36
NG_012246.1:g.14459T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.700T>A MANE Select ENSP00000286479.3:p.Leu234Met
ENST00000286479.3:c.700T>A ENSP00000286479.3:p.Leu234Met
ENST00000520116.1:c.310T>A ENSP00000428416.1:p.Leu104Met
NM_000015.2:c.700T>A NP_000006.2:p.Leu234Met
XM_011544358.1:c.700T>A XP_011542660.1:p.Leu234Met
XM_017012938.1:c.700T>A XP_016868427.1:p.Leu234Met
NM_000015.3:c.700T>A MANE Select NP_000006.2:p.Leu234Met