Canonical Allele Identifier: CA459881212
Gene: NAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.18257855T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400345T>C , CM000670.2:g.18400345T>C GRCh38
NC_000008.10:g.18257855T>C , CM000670.1:g.18257855T>C GRCh37
NC_000008.9:g.18302135T>C NCBI36
NG_012246.1:g.14101T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.342T>C MANE Select ENSP00000286479.3:p.Ile114=
ENST00000286479.3:c.342T>C ENSP00000286479.3:p.Ile114=
ENST00000520116.1:c.-49T>C ENSP00000428416.1:n.-49T>C
NM_000015.2:c.342T>C NP_000006.2:p.Ile114=
XM_011544358.1:c.342T>C XP_011542660.1:p.Ile114=
XM_017012938.1:c.342T>C XP_016868427.1:p.Ile114=
NM_000015.3:c.342T>C MANE Select NP_000006.2:p.Ile114=