Canonical Allele Identifier: CA370636664
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800780136
gnomAD v3: 8-18400809-A-C
gnomAD v4: 8-18400809-A-C
MyVariant Identifiers: chr8:g.18258319A>C (hg19) chr8:g.18400809A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400809A>C , CM000670.2:g.18400809A>C GRCh38
NC_000008.10:g.18258319A>C , CM000670.1:g.18258319A>C GRCh37
NC_000008.9:g.18302599A>C NCBI36
NG_012246.1:g.14565A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.806A>C MANE Select ENSP00000286479.3:p.Asn269Thr
ENST00000286479.3:c.806A>C ENSP00000286479.3:p.Asn269Thr
ENST00000520116.1:c.416A>C ENSP00000428416.1:p.Asn139Thr
NM_000015.2:c.806A>C NP_000006.2:p.Asn269Thr
XM_011544358.1:c.806A>C XP_011542660.1:p.Asn269Thr
XM_017012938.1:c.806A>C XP_016868427.1:p.Asn269Thr
NM_000015.3:c.806A>C MANE Select NP_000006.2:p.Asn269Thr
Search 100 bp 5'
Search 100 bp 3'