Canonical Allele Identifier: CA370635641

Gene: NAT2

Linked Data

• gnomAD v4: 8-18400328-C-G
• MyVariant Identifiers: chr8:g.18257838C>G (hg19) ; chr8:g.18400328C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400328C>G , CM000670.2:g.18400328C>G	GRCh38
NC_000008.10:g.18257838C>G , CM000670.1:g.18257838C>G	GRCh37
NC_000008.9:g.18302118C>G	NCBI36
NG_012246.1:g.14084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.325C>G MANE Select	ENSP00000286479.3:p.Leu109Val
ENST00000286479.3:c.325C>G	ENSP00000286479.3:p.Leu109Val
ENST00000520116.1:c.-57-9C>G	ENSP00000428416.1:n.-57-9C>G
NM_000015.2:c.325C>G	NP_000006.2:p.Leu109Val
XM_011544358.1:c.325C>G	XP_011542660.1:p.Leu109Val
XM_017012938.1:c.325C>G	XP_016868427.1:p.Leu109Val
NM_000015.3:c.325C>G MANE Select	NP_000006.2:p.Leu109Val