Canonical Allele Identifier: CA2686326307
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18399983-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18399983G>C , CM000670.2:g.18399983G>C GRCh38
NC_000008.10:g.18257493G>C , CM000670.1:g.18257493G>C GRCh37
NC_000008.9:g.18301773G>C NCBI36
NG_012246.1:g.13739G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-6-15G>C MANE Select ENSP00000286479.3:n.-6-15G>C
ENST00000286479.3:c.-6-15G>C ENSP00000286479.3:n.-6-15G>C
ENST00000520116.1:c.-57-354G>C ENSP00000428416.1:n.-57-354G>C
NM_000015.2:c.-6-15G>C NP_000006.2:n.-6-15G>C
XM_011544358.1:c.-6-15G>C XP_011542660.1:n.-6-15G>C
XM_017012938.1:c.-6-15G>C XP_016868427.1:n.-6-15G>C
NM_000015.3:c.-6-15G>C MANE Select NP_000006.2:n.-6-15G>C