Canonical Allele Identifier: CA459699378
Gene: NAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.18258227C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400717C>T , CM000670.2:g.18400717C>T GRCh38
NC_000008.10:g.18258227C>T , CM000670.1:g.18258227C>T GRCh37
NC_000008.9:g.18302507C>T NCBI36
NG_012246.1:g.14473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.714C>T MANE Select ENSP00000286479.3:p.Ile238=
ENST00000286479.3:c.714C>T ENSP00000286479.3:p.Ile238=
ENST00000520116.1:c.324C>T ENSP00000428416.1:p.Ile108=
NM_000015.2:c.714C>T NP_000006.2:p.Ile238=
XM_011544358.1:c.714C>T XP_011542660.1:p.Ile238=
XM_017012938.1:c.714C>T XP_016868427.1:p.Ile238=
NM_000015.3:c.714C>T MANE Select NP_000006.2:p.Ile238=