Canonical Allele Identifier: CA347288416
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641330G>T , CM000664.2:g.73641330G>T GRCh38
NC_000002.11:g.73868457G>T , CM000664.1:g.73868457G>T GRCh37
NC_000002.10:g.73721965G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.299C>A (NAT8) MANE Select ENSP00000272425.3:p.Ser100Tyr
ENST00000652439.1:n.243+5G>T (ALMS1P1)
ENST00000272425.3:c.299C>A (NAT8) ENSP00000272425.3:p.Ser100Tyr
NM_003960.3:c.299C>A (NAT8) NP_003951.3:p.Ser100Tyr
NM_003960.4:c.299C>A (NAT8) MANE Select NP_003951.3:p.Ser100Tyr