Canonical Allele Identifier: CA459881067
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1371741216
gnomAD v3: 8-18400226-C-T
gnomAD v4: 8-18400226-C-T
MyVariant Identifiers: chr8:g.18257736C>T (hg19) chr8:g.18400226C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400226C>T , CM000670.2:g.18400226C>T GRCh38
NC_000008.10:g.18257736C>T , CM000670.1:g.18257736C>T GRCh37
NC_000008.9:g.18302016C>T NCBI36
NG_012246.1:g.13982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.223C>T MANE Select ENSP00000286479.3:p.Leu75=
ENST00000286479.3:c.223C>T ENSP00000286479.3:p.Leu75=
ENST00000520116.1:c.-57-111C>T ENSP00000428416.1:n.-57-111C>T
NM_000015.2:c.223C>T NP_000006.2:p.Leu75=
XM_011544358.1:c.223C>T XP_011542660.1:p.Leu75=
XM_017012938.1:c.223C>T XP_016868427.1:p.Leu75=
NM_000015.3:c.223C>T MANE Select NP_000006.2:p.Leu75=
Search 100 bp 5'
Search 100 bp 3'