Canonical Allele Identifier: CA459699282
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800763854
gnomAD v3: 8-18400187-A-C
gnomAD v4: 8-18400187-A-C
MyVariant Identifiers: chr8:g.18257697A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400187A>C , CM000670.2:g.18400187A>C GRCh38
NC_000008.10:g.18257697A>C , CM000670.1:g.18257697A>C GRCh37
NC_000008.9:g.18301977A>C NCBI36
NG_012246.1:g.13943A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.184A>C MANE Select ENSP00000286479.3:p.Arg62=
ENST00000286479.3:c.184A>C ENSP00000286479.3:p.Arg62=
ENST00000520116.1:c.-57-150A>C ENSP00000428416.1:n.-57-150A>C
NM_000015.2:c.184A>C NP_000006.2:p.Arg62=
XM_011544358.1:c.184A>C XP_011542660.1:p.Arg62=
XM_017012938.1:c.184A>C XP_016868427.1:p.Arg62=
NM_000015.3:c.184A>C MANE Select NP_000006.2:p.Arg62=