This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA370636490
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400727A>T , CM000670.2:g.18400727A>T GRCh38
NC_000008.10:g.18258237A>T , CM000670.1:g.18258237A>T GRCh37
NC_000008.9:g.18302517A>T NCBI36
NG_012246.1:g.14483A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.724A>T MANE Select ENSP00000286479.3:p.Arg242Ter
ENST00000286479.3:c.724A>T ENSP00000286479.3:p.Arg242Ter
ENST00000520116.1:c.334A>T ENSP00000428416.1:p.Arg112Ter
NM_000015.2:c.724A>T NP_000006.2:p.Arg242Ter
XM_011544358.1:c.724A>T XP_011542660.1:p.Arg242Ter
XM_017012938.1:c.724A>T XP_016868427.1:p.Arg242Ter
NM_000015.3:c.724A>T MANE Select NP_000006.2:p.Arg242Ter