Canonical Allele Identifier: CA370635429
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400227-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400227T>G , CM000670.2:g.18400227T>G GRCh38
NC_000008.10:g.18257737T>G , CM000670.1:g.18257737T>G GRCh37
NC_000008.9:g.18302017T>G NCBI36
NG_012246.1:g.13983T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.224T>G MANE Select ENSP00000286479.3:p.Leu75Arg
ENST00000286479.3:c.224T>G ENSP00000286479.3:p.Leu75Arg
ENST00000520116.1:c.-57-110T>G ENSP00000428416.1:n.-57-110T>G
NM_000015.2:c.224T>G NP_000006.2:p.Leu75Arg
XM_011544358.1:c.224T>G XP_011542660.1:p.Leu75Arg
XM_017012938.1:c.224T>G XP_016868427.1:p.Leu75Arg
NM_000015.3:c.224T>G MANE Select NP_000006.2:p.Leu75Arg