Canonical Allele Identifier: CA370635471
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1342819768
gnomAD v2: 8-18257757-A-T
gnomAD v4: 8-18400247-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400247A>T , CM000670.2:g.18400247A>T GRCh38
NC_000008.10:g.18257757A>T , CM000670.1:g.18257757A>T GRCh37
NC_000008.9:g.18302037A>T NCBI36
NG_012246.1:g.14003A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.244A>T MANE Select ENSP00000286479.3:p.Ile82Phe
ENST00000286479.3:c.244A>T ENSP00000286479.3:p.Ile82Phe
ENST00000520116.1:c.-57-90A>T ENSP00000428416.1:n.-57-90A>T
NM_000015.2:c.244A>T NP_000006.2:p.Ile82Phe
XM_011544358.1:c.244A>T XP_011542660.1:p.Ile82Phe
XM_017012938.1:c.244A>T XP_016868427.1:p.Ile82Phe
NM_000015.3:c.244A>T MANE Select NP_000006.2:p.Ile82Phe