Canonical Allele Identifier: CA459881155
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800772264
gnomAD v3: 8-18400513-T-A
gnomAD v4: 8-18400513-T-A
MyVariant Identifiers: chr8:g.18258023T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400513T>A , CM000670.2:g.18400513T>A GRCh38
NC_000008.10:g.18258023T>A , CM000670.1:g.18258023T>A GRCh37
NC_000008.9:g.18302303T>A NCBI36
NG_012246.1:g.14269T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.510T>A MANE Select ENSP00000286479.3:p.Ile170=
ENST00000286479.3:c.510T>A ENSP00000286479.3:p.Ile170=
ENST00000520116.1:c.120T>A ENSP00000428416.1:p.Ile40=
NM_000015.2:c.510T>A NP_000006.2:p.Ile170=
XM_011544358.1:c.510T>A XP_011542660.1:p.Ile170=
XM_017012938.1:c.510T>A XP_016868427.1:p.Ile170=
NM_000015.3:c.510T>A MANE Select NP_000006.2:p.Ile170=
Search 100 bp 5'
Search 100 bp 3'