Canonical Allele Identifier: CA580185283
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1482380796
gnomAD v2: 8-18248317-C-T
gnomAD v3: 8-18390807-C-T
gnomAD v4: 8-18390807-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18390807C>T , CM000670.2:g.18390807C>T GRCh38
NC_000008.10:g.18248317C>T , CM000670.1:g.18248317C>T GRCh37
NC_000008.9:g.18292597C>T NCBI36
NG_012246.1:g.4563C>T

Transcript Alleles

HGVS Amino-acid change
XM_017012938.1:c.-7+3771C>T XP_016868427.1:n.-7+3771C>T