Canonical Allele Identifier: CA427024251
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1676380511
MyVariant Identifiers: chr2:g.73868084T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640957T>C , CM000664.2:g.73640957T>C GRCh38
NC_000002.11:g.73868084T>C , CM000664.1:g.73868084T>C GRCh37
NC_000002.10:g.73721592T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.672A>G MANE Select ENSP00000272425.3:p.Val224=
ENST00000272425.3:c.672A>G ENSP00000272425.3:p.Val224=
NM_003960.3:c.672A>G NP_003951.3:p.Val224=
NM_003960.4:c.672A>G MANE Select NP_003951.3:p.Val224=
Search 100 bp 5'
Search 100 bp 3'