Canonical Allele Identifier: CA459881343
Gene: NAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.18258206T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400696T>C , CM000670.2:g.18400696T>C GRCh38
NC_000008.10:g.18258206T>C , CM000670.1:g.18258206T>C GRCh37
NC_000008.9:g.18302486T>C NCBI36
NG_012246.1:g.14452T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.693T>C MANE Select ENSP00000286479.3:p.Val231=
ENST00000286479.3:c.693T>C ENSP00000286479.3:p.Val231=
ENST00000520116.1:c.303T>C ENSP00000428416.1:p.Val101=
NM_000015.2:c.693T>C NP_000006.2:p.Val231=
XM_011544358.1:c.693T>C XP_011542660.1:p.Val231=
XM_017012938.1:c.693T>C XP_016868427.1:p.Val231=
NM_000015.3:c.693T>C MANE Select NP_000006.2:p.Val231=
Search 100 bp 5'
Search 100 bp 3'