Canonical Allele Identifier: CA370636739
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1363900196
gnomAD v2: 8-18258354-C-A
gnomAD v4: 8-18400844-C-A
MyVariant Identifiers: chr8:g.18258354C>A (hg19) chr8:g.18400844C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400844C>A , CM000670.2:g.18400844C>A GRCh38
NC_000008.10:g.18258354C>A , CM000670.1:g.18258354C>A GRCh37
NC_000008.9:g.18302634C>A NCBI36
NG_012246.1:g.14600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.841C>A MANE Select ENSP00000286479.3:p.Pro281Thr
ENST00000286479.3:c.841C>A ENSP00000286479.3:p.Pro281Thr
ENST00000520116.1:c.451C>A ENSP00000428416.1:p.Pro151Thr
NM_000015.2:c.841C>A NP_000006.2:p.Pro281Thr
XM_011544358.1:c.841C>A XP_011542660.1:p.Pro281Thr
XM_017012938.1:c.841C>A XP_016868427.1:p.Pro281Thr
NM_000015.3:c.841C>A MANE Select NP_000006.2:p.Pro281Thr
Search 100 bp 5'
Search 100 bp 3'