Canonical Allele Identifier: CA173519887

Gene: NAT2

Linked Data

• dbSNP Id: rs377338395
• gnomAD v4: 8-18400109-C-A
• MyVariant Identifiers: chr8:g.18257619C>A (hg19) ; chr8:g.18400109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400109C>A , CM000670.2:g.18400109C>A	GRCh38
NC_000008.10:g.18257619C>A , CM000670.1:g.18257619C>A	GRCh37
NC_000008.9:g.18301899C>A	NCBI36
NG_012246.1:g.13865C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.106C>A MANE Select	ENSP00000286479.3:p.Pro36Thr
ENST00000286479.3:c.106C>A	ENSP00000286479.3:p.Pro36Thr
ENST00000520116.1:c.-57-228C>A	ENSP00000428416.1:n.-57-228C>A
NM_000015.2:c.106C>A	NP_000006.2:p.Pro36Thr
XM_011544358.1:c.106C>A	XP_011542660.1:p.Pro36Thr
XM_017012938.1:c.106C>A	XP_016868427.1:p.Pro36Thr
NM_000015.3:c.106C>A MANE Select	NP_000006.2:p.Pro36Thr