Canonical Allele Identifier: CA370636210

Gene: NAT2

Linked Data

• dbSNP Id: rs771698130
• gnomAD v4: 8-18400589-C-G
• MyVariant Identifiers: chr8:g.18258099C>G (hg19) ; chr8:g.18400589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400589C>G , CM000670.2:g.18400589C>G	GRCh38
NC_000008.10:g.18258099C>G , CM000670.1:g.18258099C>G	GRCh37
NC_000008.9:g.18302379C>G	NCBI36
NG_012246.1:g.14345C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.586C>G MANE Select	ENSP00000286479.3:p.Pro196Ala
ENST00000286479.3:c.586C>G	ENSP00000286479.3:p.Pro196Ala
ENST00000520116.1:c.196C>G	ENSP00000428416.1:p.Pro66Ala
NM_000015.2:c.586C>G	NP_000006.2:p.Pro196Ala
XM_011544358.1:c.586C>G	XP_011542660.1:p.Pro196Ala
XM_017012938.1:c.586C>G	XP_016868427.1:p.Pro196Ala
NM_000015.3:c.586C>G MANE Select	NP_000006.2:p.Pro196Ala