Canonical Allele Identifier: CA4651562
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs776854665
gnomAD v2: 8-18257683-A-G
gnomAD v4: 8-18400173-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400173A>G , CM000670.2:g.18400173A>G GRCh38
NC_000008.10:g.18257683A>G , CM000670.1:g.18257683A>G GRCh37
NC_000008.9:g.18301963A>G NCBI36
NG_012246.1:g.13929A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.170A>G MANE Select ENSP00000286479.3:p.Asp57Gly
ENST00000286479.3:c.170A>G ENSP00000286479.3:p.Asp57Gly
ENST00000520116.1:c.-57-164A>G ENSP00000428416.1:n.-57-164A>G
NM_000015.2:c.170A>G NP_000006.2:p.Asp57Gly
XM_011544358.1:c.170A>G XP_011542660.1:p.Asp57Gly
XM_017012938.1:c.170A>G XP_016868427.1:p.Asp57Gly
NM_000015.3:c.170A>G MANE Select NP_000006.2:p.Asp57Gly