Canonical Allele Identifier: CA4651577
Gene: NAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2234809
ClinVar RCV Id: RCV002723605
dbSNP Id: rs746734312
gnomAD v2: 8-18257760-G-T
gnomAD v3: 8-18400250-G-T
gnomAD v4: 8-18400250-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400250G>T , CM000670.2:g.18400250G>T GRCh38
NC_000008.10:g.18257760G>T , CM000670.1:g.18257760G>T GRCh37
NC_000008.9:g.18302040G>T NCBI36
NG_012246.1:g.14006G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.247G>T MANE Select ENSP00000286479.3:p.Gly83Cys
ENST00000286479.3:c.247G>T ENSP00000286479.3:p.Gly83Cys
ENST00000520116.1:c.-57-87G>T ENSP00000428416.1:n.-57-87G>T
NM_000015.2:c.247G>T NP_000006.2:p.Gly83Cys
XM_011544358.1:c.247G>T XP_011542660.1:p.Gly83Cys
XM_017012938.1:c.247G>T XP_016868427.1:p.Gly83Cys
NM_000015.3:c.247G>T MANE Select NP_000006.2:p.Gly83Cys