Canonical Allele Identifier: CA427024331
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs148676494
gnomAD v2: 2-73868132-C-T
gnomAD v4: 2-73641005-C-T
MyVariant Identifiers: chr2:g.73868132C>T (hg19) chr2:g.73641005C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641005C>T , CM000664.2:g.73641005C>T GRCh38
NC_000002.11:g.73868132C>T , CM000664.1:g.73868132C>T GRCh37
NC_000002.10:g.73721640C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.624G>A MANE Select ENSP00000272425.3:p.Val208=
ENST00000272425.3:c.624G>A ENSP00000272425.3:p.Val208=
NM_003960.3:c.624G>A NP_003951.3:p.Val208=
NM_003960.4:c.624G>A MANE Select NP_003951.3:p.Val208=
Search 100 bp 5'
Search 100 bp 3'