Canonical Allele Identifier: CA580185038
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1363297137
gnomAD v2: 8-18246488-T-C
gnomAD v3: 8-18388978-T-C
gnomAD v4: 8-18388978-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18388978T>C , CM000670.2:g.18388978T>C GRCh38
NC_000008.10:g.18246488T>C , CM000670.1:g.18246488T>C GRCh37
NC_000008.9:g.18290768T>C NCBI36
NG_012246.1:g.2734T>C

Transcript Alleles

HGVS Amino-acid Change
XM_017012938.1:c.-7+1942T>C XP_016868427.1:n.-7+1942T>C