Canonical Allele Identifier: CA370636558
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400757C>A , CM000670.2:g.18400757C>A GRCh38
NC_000008.10:g.18258267C>A , CM000670.1:g.18258267C>A GRCh37
NC_000008.9:g.18302547C>A NCBI36
NG_012246.1:g.14513C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.754C>A MANE Select ENSP00000286479.3:p.Leu252Met
ENST00000286479.3:c.754C>A ENSP00000286479.3:p.Leu252Met
ENST00000520116.1:c.364C>A ENSP00000428416.1:p.Leu122Met
NM_000015.2:c.754C>A NP_000006.2:p.Leu252Met
XM_011544358.1:c.754C>A XP_011542660.1:p.Leu252Met
XM_017012938.1:c.754C>A XP_016868427.1:p.Leu252Met
NM_000015.3:c.754C>A MANE Select NP_000006.2:p.Leu252Met