Canonical Allele Identifier: CA370635660
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1383708687
gnomAD v2: 8-18257847-G-A
gnomAD v3: 8-18400337-G-A
gnomAD v4: 8-18400337-G-A
MyVariant Identifiers: chr8:g.18257847G>A (hg19) chr8:g.18400337G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400337G>A , CM000670.2:g.18400337G>A GRCh38
NC_000008.10:g.18257847G>A , CM000670.1:g.18257847G>A GRCh37
NC_000008.9:g.18302127G>A NCBI36
NG_012246.1:g.14093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.334G>A MANE Select ENSP00000286479.3:p.Val112Met
ENST00000286479.3:c.334G>A ENSP00000286479.3:p.Val112Met
ENST00000520116.1:c.-57G>A ENSP00000428416.1:n.-57G>A
NM_000015.2:c.334G>A NP_000006.2:p.Val112Met
XM_011544358.1:c.334G>A XP_011542660.1:p.Val112Met
XM_017012938.1:c.334G>A XP_016868427.1:p.Val112Met
NM_000015.3:c.334G>A MANE Select NP_000006.2:p.Val112Met
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