Canonical Allele Identifier: CA4651527
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs754150699
ExAC: 8:18257518 A / G
gnomAD v2: 8-18257518-A-G
gnomAD v4: 8-18400008-A-G
MyVariant Identifiers: chr8:g.18257518A>G (hg19) chr8:g.18400008A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400008A>G , CM000670.2:g.18400008A>G GRCh38
NC_000008.10:g.18257518A>G , CM000670.1:g.18257518A>G GRCh37
NC_000008.9:g.18301798A>G NCBI36
NG_012246.1:g.13764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.5A>G MANE Select ENSP00000286479.3:p.Asp2Gly
ENST00000286479.3:c.5A>G ENSP00000286479.3:p.Asp2Gly
ENST00000520116.1:c.-57-329A>G ENSP00000428416.1:n.-57-329A>G
NM_000015.2:c.5A>G NP_000006.2:p.Asp2Gly
XM_011544358.1:c.5A>G XP_011542660.1:p.Asp2Gly
XM_017012938.1:c.5A>G XP_016868427.1:p.Asp2Gly
NM_000015.3:c.5A>G MANE Select NP_000006.2:p.Asp2Gly
Search 100 bp 5'
Search 100 bp 3'