Canonical Allele Identifier: CA533687778
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1336274630
gnomAD v2: 2-73867936-A-G
gnomAD v3: 2-73640809-A-G
gnomAD v4: 2-73640809-A-G
MyVariant Identifiers: chr2:g.73867936A>G (hg19) chr2:g.73640809A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640809A>G , CM000664.2:g.73640809A>G GRCh38
NC_000002.11:g.73867936A>G , CM000664.1:g.73867936A>G GRCh37
NC_000002.10:g.73721444A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*136T>C MANE Select ENSP00000272425.3:n.*136T>C
NM_003960.3:c.*136T>C NP_003951.3:n.*136T>C
NM_003960.4:c.*136T>C MANE Select NP_003951.3:n.*136T>C
Search 100 bp 5'
Search 100 bp 3'