Canonical Allele Identifier: CA370636568
Gene: NAT2 HGNC NCBI

Linked Data

COSMIC: COSM750179

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400763G>T , CM000670.2:g.18400763G>T GRCh38
NC_000008.10:g.18258273G>T , CM000670.1:g.18258273G>T GRCh37
NC_000008.9:g.18302553G>T NCBI36
NG_012246.1:g.14519G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.760G>T MANE Select ENSP00000286479.3:p.Glu254Ter
ENST00000286479.3:c.760G>T ENSP00000286479.3:p.Glu254Ter
ENST00000520116.1:c.370G>T ENSP00000428416.1:p.Glu124Ter
NM_000015.2:c.760G>T NP_000006.2:p.Glu254Ter
XM_011544358.1:c.760G>T XP_011542660.1:p.Glu254Ter
XM_017012938.1:c.760G>T XP_016868427.1:p.Glu254Ter
NM_000015.3:c.760G>T MANE Select NP_000006.2:p.Glu254Ter