Canonical Allele Identifier: CA370636206
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400587A>T , CM000670.2:g.18400587A>T GRCh38
NC_000008.10:g.18258097A>T , CM000670.1:g.18258097A>T GRCh37
NC_000008.9:g.18302377A>T NCBI36
NG_012246.1:g.14343A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.584A>T MANE Select ENSP00000286479.3:p.Glu195Val
ENST00000286479.3:c.584A>T ENSP00000286479.3:p.Glu195Val
ENST00000520116.1:c.194A>T ENSP00000428416.1:p.Glu65Val
NM_000015.2:c.584A>T NP_000006.2:p.Glu195Val
XM_011544358.1:c.584A>T XP_011542660.1:p.Glu195Val
XM_017012938.1:c.584A>T XP_016868427.1:p.Glu195Val
NM_000015.3:c.584A>T MANE Select NP_000006.2:p.Glu195Val