Canonical Allele Identifier: CA459881068
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs200775849
gnomAD v2: 8-18257738-G-A
gnomAD v3: 8-18400228-G-A
gnomAD v4: 8-18400228-G-A
MyVariant Identifiers: chr8:g.18257738G>A (hg19) chr8:g.18400228G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400228G>A , CM000670.2:g.18400228G>A GRCh38
NC_000008.10:g.18257738G>A , CM000670.1:g.18257738G>A GRCh37
NC_000008.9:g.18302018G>A NCBI36
NG_012246.1:g.13984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.225G>A MANE Select ENSP00000286479.3:p.Leu75=
ENST00000286479.3:c.225G>A ENSP00000286479.3:p.Leu75=
ENST00000520116.1:c.-57-109G>A ENSP00000428416.1:n.-57-109G>A
NM_000015.2:c.225G>A NP_000006.2:p.Leu75=
XM_011544358.1:c.225G>A XP_011542660.1:p.Leu75=
XM_017012938.1:c.225G>A XP_016868427.1:p.Leu75=
NM_000015.3:c.225G>A MANE Select NP_000006.2:p.Leu75=
Search 100 bp 5'
Search 100 bp 3'