Canonical Allele Identifier: CA4651691
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs762908305

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400761T>C , CM000670.2:g.18400761T>C GRCh38
NC_000008.10:g.18258271T>C , CM000670.1:g.18258271T>C GRCh37
NC_000008.9:g.18302551T>C NCBI36
NG_012246.1:g.14517T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.758T>C MANE Select ENSP00000286479.3:p.Val253Ala
ENST00000286479.3:c.758T>C ENSP00000286479.3:p.Val253Ala
ENST00000520116.1:c.368T>C ENSP00000428416.1:p.Val123Ala
NM_000015.2:c.758T>C NP_000006.2:p.Val253Ala
XM_011544358.1:c.758T>C XP_011542660.1:p.Val253Ala
XM_017012938.1:c.758T>C XP_016868427.1:p.Val253Ala
NM_000015.3:c.758T>C MANE Select NP_000006.2:p.Val253Ala