Canonical Allele Identifier: CA459881140
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1167239048
gnomAD v2: 8-18257987-C-T
gnomAD v4: 8-18400477-C-T
MyVariant Identifiers: chr8:g.18257987C>T (hg19) chr8:g.18400477C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400477C>T , CM000670.2:g.18400477C>T GRCh38
NC_000008.10:g.18257987C>T , CM000670.1:g.18257987C>T GRCh37
NC_000008.9:g.18302267C>T NCBI36
NG_012246.1:g.14233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.474C>T MANE Select ENSP00000286479.3:p.Ile158=
ENST00000286479.3:c.474C>T ENSP00000286479.3:p.Ile158=
ENST00000520116.1:c.84C>T ENSP00000428416.1:p.Ile28=
NM_000015.2:c.474C>T NP_000006.2:p.Ile158=
XM_011544358.1:c.474C>T XP_011542660.1:p.Ile158=
XM_017012938.1:c.474C>T XP_016868427.1:p.Ile158=
NM_000015.3:c.474C>T MANE Select NP_000006.2:p.Ile158=
Search 100 bp 5'
Search 100 bp 3'