Canonical Allele Identifier: CA370636572
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400764-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400764A>G , CM000670.2:g.18400764A>G GRCh38
NC_000008.10:g.18258274A>G , CM000670.1:g.18258274A>G GRCh37
NC_000008.9:g.18302554A>G NCBI36
NG_012246.1:g.14520A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.761A>G MANE Select ENSP00000286479.3:p.Glu254Gly
ENST00000286479.3:c.761A>G ENSP00000286479.3:p.Glu254Gly
ENST00000520116.1:c.371A>G ENSP00000428416.1:p.Glu124Gly
NM_000015.2:c.761A>G NP_000006.2:p.Glu254Gly
XM_011544358.1:c.761A>G XP_011542660.1:p.Glu254Gly
XM_017012938.1:c.761A>G XP_016868427.1:p.Glu254Gly
NM_000015.3:c.761A>G MANE Select NP_000006.2:p.Glu254Gly