Canonical Allele Identifier: CA370635441
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1311450114
gnomAD v2: 8-18257743-G-A
gnomAD v3: 8-18400233-G-A
gnomAD v4: 8-18400233-G-A
MyVariant Identifiers: chr8:g.18257743G>A (hg19) chr8:g.18400233G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400233G>A , CM000670.2:g.18400233G>A GRCh38
NC_000008.10:g.18257743G>A , CM000670.1:g.18257743G>A GRCh37
NC_000008.9:g.18302023G>A NCBI36
NG_012246.1:g.13989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.230G>A MANE Select ENSP00000286479.3:p.Trp77Ter
ENST00000286479.3:c.230G>A ENSP00000286479.3:p.Trp77Ter
ENST00000520116.1:c.-57-104G>A ENSP00000428416.1:n.-57-104G>A
NM_000015.2:c.230G>A NP_000006.2:p.Trp77Ter
XM_011544358.1:c.230G>A XP_011542660.1:p.Trp77Ter
XM_017012938.1:c.230G>A XP_016868427.1:p.Trp77Ter
NM_000015.3:c.230G>A MANE Select NP_000006.2:p.Trp77Ter
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