Canonical Allele Identifier: CA370636574

Gene: NAT2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400765G>T , CM000670.2:g.18400765G>T	GRCh38
NC_000008.10:g.18258275G>T , CM000670.1:g.18258275G>T	GRCh37
NC_000008.9:g.18302555G>T	NCBI36
NG_012246.1:g.14521G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000015.3:c.762G>T MANE Select	NP_000006.2:p.Glu254Asp
ENST00000286479.4:c.762G>T MANE Select	ENSP00000286479.3:p.Glu254Asp
NM_000015.2:c.762G>T	NP_000006.2:p.Glu254Asp
ENST00000286479.3:c.762G>T	ENSP00000286479.3:p.Glu254Asp
ENST00000520116.1:c.372G>T	ENSP00000428416.1:p.Glu124Asp
XM_011544358.1:c.762G>T	XP_011542660.1:p.Glu254Asp
XM_017012938.1:c.762G>T	XP_016868427.1:p.Glu254Asp