Canonical Allele Identifier: CA370636624
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1290457380
gnomAD v2: 8-18258300-G-A
gnomAD v4: 8-18400790-G-A
MyVariant Identifiers: chr8:g.18258300G>A (hg19) chr8:g.18400790G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400790G>A , CM000670.2:g.18400790G>A GRCh38
NC_000008.10:g.18258300G>A , CM000670.1:g.18258300G>A GRCh37
NC_000008.9:g.18302580G>A NCBI36
NG_012246.1:g.14546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.787G>A MANE Select ENSP00000286479.3:p.Val263Ile
ENST00000286479.3:c.787G>A ENSP00000286479.3:p.Val263Ile
ENST00000520116.1:c.397G>A ENSP00000428416.1:p.Val133Ile
NM_000015.2:c.787G>A NP_000006.2:p.Val263Ile
XM_011544358.1:c.787G>A XP_011542660.1:p.Val263Ile
XM_017012938.1:c.787G>A XP_016868427.1:p.Val263Ile
NM_000015.3:c.787G>A MANE Select NP_000006.2:p.Val263Ile
Search 100 bp 5'
Search 100 bp 3'