Canonical Allele Identifier: CA370635724

Gene: NAT2

Linked Data

• dbSNP Id: rs4986996
• gnomAD v4: 8-18400367-G-C
• MyVariant Identifiers: chr8:g.18257877G>C (hg19) ; chr8:g.18400367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400367G>C , CM000670.2:g.18400367G>C	GRCh38
NC_000008.10:g.18257877G>C , CM000670.1:g.18257877G>C	GRCh37
NC_000008.9:g.18302157G>C	NCBI36
NG_012246.1:g.14123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.364G>C MANE Select	ENSP00000286479.3:p.Asp122His
ENST00000286479.3:c.364G>C	ENSP00000286479.3:p.Asp122His
ENST00000520116.1:c.-27G>C	ENSP00000428416.1:n.-27G>C
NM_000015.2:c.364G>C	NP_000006.2:p.Asp122His
XM_011544358.1:c.364G>C	XP_011542660.1:p.Asp122His
XM_017012938.1:c.364G>C	XP_016868427.1:p.Asp122His
NM_000015.3:c.364G>C MANE Select	NP_000006.2:p.Asp122His