Canonical Allele Identifier: CA370635187
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400118-A-C
MyVariant Identifiers: chr8:g.18257628A>C (hg19) chr8:g.18400118A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400118A>C , CM000670.2:g.18400118A>C GRCh38
NC_000008.10:g.18257628A>C , CM000670.1:g.18257628A>C GRCh37
NC_000008.9:g.18301908A>C NCBI36
NG_012246.1:g.13874A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.115A>C MANE Select ENSP00000286479.3:p.Asn39His
ENST00000286479.3:c.115A>C ENSP00000286479.3:p.Asn39His
ENST00000520116.1:c.-57-219A>C ENSP00000428416.1:n.-57-219A>C
NM_000015.2:c.115A>C NP_000006.2:p.Asn39His
XM_011544358.1:c.115A>C XP_011542660.1:p.Asn39His
XM_017012938.1:c.115A>C XP_016868427.1:p.Asn39His
NM_000015.3:c.115A>C MANE Select NP_000006.2:p.Asn39His
Search 100 bp 5'
Search 100 bp 3'