Canonical Allele Identifier: CA347287959
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.348G>T (NAT8) MANE Select ENSP00000272425.3:p.Glu116Asp
ENST00000652439.1:n.199C>A (ALMS1P1)
ENST00000272425.3:c.348G>T (NAT8) ENSP00000272425.3:p.Glu116Asp
NM_003960.3:c.348G>T (NAT8) NP_003951.3:p.Glu116Asp
NM_003960.4:c.348G>T (NAT8) MANE Select NP_003951.3:p.Glu116Asp