Canonical Allele Identifier: CA173519931
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs375746304
gnomAD v2: 8-18258102-C-A
gnomAD v3: 8-18400592-C-A
gnomAD v4: 8-18400592-C-A
MyVariant Identifiers: chr8:g.18258102C>A (hg19) chr8:g.18400592C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400592C>A , CM000670.2:g.18400592C>A GRCh38
NC_000008.10:g.18258102C>A , CM000670.1:g.18258102C>A GRCh37
NC_000008.9:g.18302382C>A NCBI36
NG_012246.1:g.14348C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.589C>A MANE Select ENSP00000286479.3:p.Arg197=
ENST00000286479.3:c.589C>A ENSP00000286479.3:p.Arg197=
ENST00000520116.1:c.199C>A ENSP00000428416.1:p.Arg67=
NM_000015.2:c.589C>A NP_000006.2:p.Arg197=
XM_011544358.1:c.589C>A XP_011542660.1:p.Arg197=
XM_017012938.1:c.589C>A XP_016868427.1:p.Arg197=
NM_000015.3:c.589C>A MANE Select NP_000006.2:p.Arg197=
Search 100 bp 5'
Search 100 bp 3'