Canonical Allele Identifier: CA347286177
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1265704744
gnomAD v4: 2-73640991-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640991A>G , CM000664.2:g.73640991A>G GRCh38
NC_000002.11:g.73868118A>G , CM000664.1:g.73868118A>G GRCh37
NC_000002.10:g.73721626A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.638T>C MANE Select ENSP00000272425.3:p.Val213Ala
ENST00000272425.3:c.638T>C ENSP00000272425.3:p.Val213Ala
NM_003960.3:c.638T>C NP_003951.3:p.Val213Ala
NM_003960.4:c.638T>C MANE Select NP_003951.3:p.Val213Ala