Canonical Allele Identifier: CA173518488
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs563251235
gnomAD v2: 8-18246459-G-T
gnomAD v3: 8-18388949-G-T
gnomAD v4: 8-18388949-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18388949G>T , CM000670.2:g.18388949G>T GRCh38
NC_000008.10:g.18246459G>T , CM000670.1:g.18246459G>T GRCh37
NC_000008.9:g.18290739G>T NCBI36
NG_012246.1:g.2705G>T

Transcript Alleles

HGVS Amino-acid Change
XM_017012938.1:c.-7+1913G>T XP_016868427.1:n.-7+1913G>T