Canonical Allele Identifier: CA4651692
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs56011192

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400762C>T , CM000670.2:g.18400762C>T GRCh38
NC_000008.10:g.18258272C>T , CM000670.1:g.18258272C>T GRCh37
NC_000008.9:g.18302552C>T NCBI36
NG_012246.1:g.14518C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.759C>T MANE Select ENSP00000286479.3:p.Val253=
ENST00000286479.3:c.759C>T ENSP00000286479.3:p.Val253=
ENST00000520116.1:c.369C>T ENSP00000428416.1:p.Val123=
NM_000015.2:c.759C>T NP_000006.2:p.Val253=
XM_011544358.1:c.759C>T XP_011542660.1:p.Val253=
XM_017012938.1:c.759C>T XP_016868427.1:p.Val253=
NM_000015.3:c.759C>T MANE Select NP_000006.2:p.Val253=