Canonical Allele Identifier: CA370635247
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1463045225
gnomAD v2: 8-18257653-C-T
gnomAD v4: 8-18400143-C-T
MyVariant Identifiers: chr8:g.18257653C>T (hg19) chr8:g.18400143C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400143C>T , CM000670.2:g.18400143C>T GRCh38
NC_000008.10:g.18257653C>T , CM000670.1:g.18257653C>T GRCh37
NC_000008.9:g.18301933C>T NCBI36
NG_012246.1:g.13899C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.140C>T MANE Select ENSP00000286479.3:p.Ala47Val
ENST00000286479.3:c.140C>T ENSP00000286479.3:p.Ala47Val
ENST00000520116.1:c.-57-194C>T ENSP00000428416.1:n.-57-194C>T
NM_000015.2:c.140C>T NP_000006.2:p.Ala47Val
XM_011544358.1:c.140C>T XP_011542660.1:p.Ala47Val
XM_017012938.1:c.140C>T XP_016868427.1:p.Ala47Val
NM_000015.3:c.140C>T MANE Select NP_000006.2:p.Ala47Val
Search 100 bp 5'
Search 100 bp 3'