Canonical Allele Identifier: CA4651695

Gene: NAT2

Linked Data

• dbSNP Id: rs373698592
• ExAC: 8:18258282 A / T
• gnomAD v2: 8-18258282-A-T
• gnomAD v3: 8-18400772-A-T
• gnomAD v4: 8-18400772-A-T
• MyVariant Identifiers: chr8:g.18258282A>T (hg19) ; chr8:g.18258282_18258284delinsTCT (hg19) ; chr8:g.18400772A>T (hg38) ; chr8:g.18400772_18400774delinsTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400772A>T , CM000670.2:g.18400772A>T	GRCh38
NC_000008.10:g.18258282A>T , CM000670.1:g.18258282A>T	GRCh37
NC_000008.9:g.18302562A>T	NCBI36
NG_012246.1:g.14528A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.769A>T MANE Select	ENSP00000286479.3:p.Thr257Ser
ENST00000286479.3:c.769A>T	ENSP00000286479.3:p.Thr257Ser
ENST00000520116.1:c.379A>T	ENSP00000428416.1:p.Thr127Ser
NM_000015.2:c.769A>T	NP_000006.2:p.Thr257Ser
XM_011544358.1:c.769A>T	XP_011542660.1:p.Thr257Ser
XM_017012938.1:c.769A>T	XP_016868427.1:p.Thr257Ser
NM_000015.3:c.769A>T MANE Select	NP_000006.2:p.Thr257Ser