Canonical Allele Identifier: CA114453
Gene: NAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 725
ClinVar RCV Id: RCV000000761
dbSNP Id: rs1799931

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400860G>A , CM000670.2:g.18400860G>A GRCh38
NC_000008.10:g.18258370G>A , CM000670.1:g.18258370G>A GRCh37
NC_000008.9:g.18302650G>A NCBI36
NG_012246.1:g.14616G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.857G>A MANE Select ENSP00000286479.3:p.Gly286Glu
ENST00000286479.3:c.857G>A ENSP00000286479.3:p.Gly286Glu
ENST00000520116.1:c.467G>A ENSP00000428416.1:p.Gly156Glu
NM_000015.2:c.857G>A NP_000006.2:p.Gly286Glu
XM_011544358.1:c.857G>A XP_011542660.1:p.Gly286Glu
XM_017012938.1:c.857G>A XP_016868427.1:p.Gly286Glu
NM_000015.3:c.857G>A MANE Select NP_000006.2:p.Gly286Glu