Canonical Allele Identifier: CA370635220
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400131-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400131A>G , CM000670.2:g.18400131A>G GRCh38
NC_000008.10:g.18257641A>G , CM000670.1:g.18257641A>G GRCh37
NC_000008.9:g.18301921A>G NCBI36
NG_012246.1:g.13887A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.128A>G MANE Select ENSP00000286479.3:p.His43Arg
ENST00000286479.3:c.128A>G ENSP00000286479.3:p.His43Arg
ENST00000520116.1:c.-57-206A>G ENSP00000428416.1:n.-57-206A>G
NM_000015.2:c.128A>G NP_000006.2:p.His43Arg
XM_011544358.1:c.128A>G XP_011542660.1:p.His43Arg
XM_017012938.1:c.128A>G XP_016868427.1:p.His43Arg
NM_000015.3:c.128A>G MANE Select NP_000006.2:p.His43Arg