Canonical Allele Identifier: CA1715653
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1062866
ExAC: 2:73868151 C / T
gnomAD v2: 2-73868151-C-T
gnomAD v3: 2-73641024-C-T
gnomAD v4: 2-73641024-C-T
MyVariant Identifiers: chr2:g.73868151C>T (hg19) chr2:g.73868151_73868154delinsTAGA (hg19) chr2:g.73641024C>T (hg38) chr2:g.73641024_73641027delinsTAGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641024C>T , CM000664.2:g.73641024C>T GRCh38
NC_000002.11:g.73868151C>T , CM000664.1:g.73868151C>T GRCh37
NC_000002.10:g.73721659C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.605G>A MANE Select ENSP00000272425.3:p.Cys202Tyr
ENST00000272425.3:c.605G>A ENSP00000272425.3:p.Cys202Tyr
NM_003960.3:c.605G>A NP_003951.3:p.Cys202Tyr
NM_003960.4:c.605G>A MANE Select NP_003951.3:p.Cys202Tyr
Search 100 bp 5'
Search 100 bp 3'