Canonical Allele Identifier: CA459881221

Gene: NAT2

Linked Data

• dbSNP Id: rs372383623
• gnomAD v4: 8-18400366-C-G
• MyVariant Identifiers: chr8:g.18257876C>G (hg19) ; chr8:g.18400366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400366C>G , CM000670.2:g.18400366C>G	GRCh38
NC_000008.10:g.18257876C>G , CM000670.1:g.18257876C>G	GRCh37
NC_000008.9:g.18302156C>G	NCBI36
NG_012246.1:g.14122C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.363C>G MANE Select	ENSP00000286479.3:p.Val121=
ENST00000286479.3:c.363C>G	ENSP00000286479.3:p.Val121=
ENST00000520116.1:c.-28C>G	ENSP00000428416.1:n.-28C>G
NM_000015.2:c.363C>G	NP_000006.2:p.Val121=
XM_011544358.1:c.363C>G	XP_011542660.1:p.Val121=
XM_017012938.1:c.363C>G	XP_016868427.1:p.Val121=
NM_000015.3:c.363C>G MANE Select	NP_000006.2:p.Val121=