Canonical Allele Identifier: CA4651595
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs751243960
ExAC: 8:18257836 T / G
gnomAD v2: 8-18257836-T-G
gnomAD v4: 8-18400326-T-G
MyVariant Identifiers: chr8:g.18257836T>G (hg19) chr8:g.18400326T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400326T>G , CM000670.2:g.18400326T>G GRCh38
NC_000008.10:g.18257836T>G , CM000670.1:g.18257836T>G GRCh37
NC_000008.9:g.18302116T>G NCBI36
NG_012246.1:g.14082T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.323T>G MANE Select ENSP00000286479.3:p.Leu108Arg
ENST00000286479.3:c.323T>G ENSP00000286479.3:p.Leu108Arg
ENST00000520116.1:c.-57-11T>G ENSP00000428416.1:n.-57-11T>G
NM_000015.2:c.323T>G NP_000006.2:p.Leu108Arg
XM_011544358.1:c.323T>G XP_011542660.1:p.Leu108Arg
XM_017012938.1:c.323T>G XP_016868427.1:p.Leu108Arg
NM_000015.3:c.323T>G MANE Select NP_000006.2:p.Leu108Arg
Search 100 bp 5'
Search 100 bp 3'