Canonical Allele Identifier: CA4651682
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs149460636
gnomAD v2: 8-18258220-G-A
gnomAD v3: 8-18400710-G-A
gnomAD v4: 8-18400710-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400710G>A , CM000670.2:g.18400710G>A GRCh38
NC_000008.10:g.18258220G>A , CM000670.1:g.18258220G>A GRCh37
NC_000008.9:g.18302500G>A NCBI36
NG_012246.1:g.14466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.707G>A MANE Select ENSP00000286479.3:p.Gly236Asp
ENST00000286479.3:c.707G>A ENSP00000286479.3:p.Gly236Asp
ENST00000520116.1:c.317G>A ENSP00000428416.1:p.Gly106Asp
NM_000015.2:c.707G>A NP_000006.2:p.Gly236Asp
XM_011544358.1:c.707G>A XP_011542660.1:p.Gly236Asp
XM_017012938.1:c.707G>A XP_016868427.1:p.Gly236Asp
NM_000015.3:c.707G>A MANE Select NP_000006.2:p.Gly236Asp