Canonical Allele Identifier: CA173519916
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1009022992
gnomAD v4: 8-18400388-T-A
MyVariant Identifiers: chr8:g.18257898T>A (hg19) chr8:g.18400388T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400388T>A , CM000670.2:g.18400388T>A GRCh38
NC_000008.10:g.18257898T>A , CM000670.1:g.18257898T>A GRCh37
NC_000008.9:g.18302178T>A NCBI36
NG_012246.1:g.14144T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.385T>A MANE Select ENSP00000286479.3:p.Ser129Thr
ENST00000286479.3:c.385T>A ENSP00000286479.3:p.Ser129Thr
ENST00000520116.1:c.-6T>A ENSP00000428416.1:n.-6T>A
NM_000015.2:c.385T>A NP_000006.2:p.Ser129Thr
XM_011544358.1:c.385T>A XP_011542660.1:p.Ser129Thr
XM_017012938.1:c.385T>A XP_016868427.1:p.Ser129Thr
NM_000015.3:c.385T>A MANE Select NP_000006.2:p.Ser129Thr
Search 100 bp 5'
Search 100 bp 3'