Canonical Allele Identifier: CA173519948
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs868725509
gnomAD v2: 8-18258322-T-C
gnomAD v4: 8-18400812-T-C
MyVariant Identifiers: chr8:g.18258322T>C (hg19) chr8:g.18400812T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400812T>C , CM000670.2:g.18400812T>C GRCh38
NC_000008.10:g.18258322T>C , CM000670.1:g.18258322T>C GRCh37
NC_000008.9:g.18302602T>C NCBI36
NG_012246.1:g.14568T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.809T>C MANE Select ENSP00000286479.3:p.Ile270Thr
ENST00000286479.3:c.809T>C ENSP00000286479.3:p.Ile270Thr
ENST00000520116.1:c.419T>C ENSP00000428416.1:p.Ile140Thr
NM_000015.2:c.809T>C NP_000006.2:p.Ile270Thr
XM_011544358.1:c.809T>C XP_011542660.1:p.Ile270Thr
XM_017012938.1:c.809T>C XP_016868427.1:p.Ile270Thr
NM_000015.3:c.809T>C MANE Select NP_000006.2:p.Ile270Thr
Search 100 bp 5'
Search 100 bp 3'