Canonical Allele Identifier: CA4651706
Gene: NAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3176402
ClinVar RCV Id: RCV004472278
dbSNP Id: rs148566670
ExAC: 8:18258336 T / A
gnomAD v2: 8-18258336-T-A
gnomAD v3: 8-18400826-T-A
gnomAD v4: 8-18400826-T-A
MyVariant Identifiers: chr8:g.18258336T>A (hg19) chr8:g.18400826T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400826T>A , CM000670.2:g.18400826T>A GRCh38
NC_000008.10:g.18258336T>A , CM000670.1:g.18258336T>A GRCh37
NC_000008.9:g.18302616T>A NCBI36
NG_012246.1:g.14582T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.823T>A MANE Select ENSP00000286479.3:p.Leu275Met
ENST00000286479.3:c.823T>A ENSP00000286479.3:p.Leu275Met
ENST00000520116.1:c.433T>A ENSP00000428416.1:p.Leu145Met
NM_000015.2:c.823T>A NP_000006.2:p.Leu275Met
XM_011544358.1:c.823T>A XP_011542660.1:p.Leu275Met
XM_017012938.1:c.823T>A XP_016868427.1:p.Leu275Met
NM_000015.3:c.823T>A MANE Select NP_000006.2:p.Leu275Met
Search 100 bp 5'
Search 100 bp 3'