Canonical Allele Identifier: CA347289758
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs769796959

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641348A>C , CM000664.2:g.73641348A>C GRCh38
NC_000002.11:g.73868475A>C , CM000664.1:g.73868475A>C GRCh37
NC_000002.10:g.73721983A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.281T>G (NAT8) MANE Select ENSP00000272425.3:p.Met94Arg
ENST00000652439.1:n.243+23A>C (ALMS1P1)
ENST00000272425.3:c.281T>G (NAT8) ENSP00000272425.3:p.Met94Arg
NM_003960.3:c.281T>G (NAT8) NP_003951.3:p.Met94Arg
NM_003960.4:c.281T>G (NAT8) MANE Select NP_003951.3:p.Met94Arg