Canonical Allele Identifier: CA4651696

Gene: NAT2

Linked Data

• dbSNP Id: rs373698592
• ExAC: 8:18258282 A / G
• gnomAD v2: 8-18258282-A-G
• gnomAD v4: 8-18400772-A-G
• MyVariant Identifiers: chr8:g.18258282A>G (hg19) ; chr8:g.18258282_18258284delinsGCT (hg19) ; chr8:g.18400772A>G (hg38) ; chr8:g.18400772_18400774delinsGCT (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.769A>G MANE Select	ENSP00000286479.3:p.Thr257Ala
ENST00000286479.3:c.769A>G	ENSP00000286479.3:p.Thr257Ala
ENST00000520116.1:c.379A>G	ENSP00000428416.1:p.Thr127Ala
NM_000015.2:c.769A>G	NP_000006.2:p.Thr257Ala
XM_011544358.1:c.769A>G	XP_011542660.1:p.Thr257Ala
XM_017012938.1:c.769A>G	XP_016868427.1:p.Thr257Ala
NM_000015.3:c.769A>G MANE Select	NP_000006.2:p.Thr257Ala