Canonical Allele Identifier: CA173518469
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs760420552
gnomAD v2: 8-18246316-C-T
gnomAD v3: 8-18388806-C-T
gnomAD v4: 8-18388806-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18388806C>T , CM000670.2:g.18388806C>T GRCh38
NC_000008.10:g.18246316C>T , CM000670.1:g.18246316C>T GRCh37
NC_000008.9:g.18290596C>T NCBI36
NG_012246.1:g.2562C>T

Transcript Alleles

HGVS Amino-acid Change
XM_017012938.1:c.-7+1770C>T XP_016868427.1:n.-7+1770C>T