Canonical Allele Identifier: CA1261057257
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641281C= , CM000664.2:g.73641281C= GRCh38
NC_000002.11:g.73868408C= , CM000664.1:g.73868408C= GRCh37
NC_000002.10:g.73721916C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.348G= (NAT8) MANE Select ENSP00000272425.3:p.Glu116=
ENST00000652439.1:n.199C= (ALMS1P1)
ENST00000272425.3:c.348G= (NAT8) ENSP00000272425.3:p.Glu116=
NM_003960.3:c.348G= (NAT8) NP_003951.3:p.Glu116=
NM_003960.4:c.348G= (NAT8) MANE Select NP_003951.3:p.Glu116=
Search 100 bp 5'
Search 100 bp 3'