Canonical Allele Identifier: CA370636292

Gene: NAT2

Linked Data

• dbSNP Id: rs1246640246
• gnomAD v4: 8-18400629-T-C
• MyVariant Identifiers: chr8:g.18258139T>C (hg19) ; chr8:g.18400629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400629T>C , CM000670.2:g.18400629T>C	GRCh38
NC_000008.10:g.18258139T>C , CM000670.1:g.18258139T>C	GRCh37
NC_000008.9:g.18302419T>C	NCBI36
NG_012246.1:g.14385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.626T>C MANE Select	ENSP00000286479.3:p.Leu209Pro
ENST00000286479.3:c.626T>C	ENSP00000286479.3:p.Leu209Pro
ENST00000520116.1:c.236T>C	ENSP00000428416.1:p.Leu79Pro
NM_000015.2:c.626T>C	NP_000006.2:p.Leu209Pro
XM_011544358.1:c.626T>C	XP_011542660.1:p.Leu209Pro
XM_017012938.1:c.626T>C	XP_016868427.1:p.Leu209Pro
NM_000015.3:c.626T>C MANE Select	NP_000006.2:p.Leu209Pro