Canonical Allele Identifier: CA370635470
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400247-A-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.244A>G MANE Select ENSP00000286479.3:p.Ile82Val
ENST00000286479.3:c.244A>G ENSP00000286479.3:p.Ile82Val
ENST00000520116.1:c.-57-90A>G ENSP00000428416.1:n.-57-90A>G
NM_000015.2:c.244A>G NP_000006.2:p.Ile82Val
XM_011544358.1:c.244A>G XP_011542660.1:p.Ile82Val
XM_017012938.1:c.244A>G XP_016868427.1:p.Ile82Val
NM_000015.3:c.244A>G MANE Select NP_000006.2:p.Ile82Val