Canonical Allele Identifier: CA370636569
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.760G>C MANE Select ENSP00000286479.3:p.Glu254Gln
ENST00000286479.3:c.760G>C ENSP00000286479.3:p.Glu254Gln
ENST00000520116.1:c.370G>C ENSP00000428416.1:p.Glu124Gln
NM_000015.2:c.760G>C NP_000006.2:p.Glu254Gln
XM_011544358.1:c.760G>C XP_011542660.1:p.Glu254Gln
XM_017012938.1:c.760G>C XP_016868427.1:p.Glu254Gln
NM_000015.3:c.760G>C MANE Select NP_000006.2:p.Glu254Gln