Canonical Allele Identifier: CA1715684
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs376906675
gnomAD v2: 2-73868263-C-A
gnomAD v3: 2-73641136-C-A
gnomAD v4: 2-73641136-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641136C>A , CM000664.2:g.73641136C>A GRCh38
NC_000002.11:g.73868263C>A , CM000664.1:g.73868263C>A GRCh37
NC_000002.10:g.73721771C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.493G>T (NAT8) MANE Select ENSP00000272425.3:p.Ala165Ser
ENST00000652439.1:n.54C>A (ALMS1P1)
ENST00000272425.3:c.493G>T (NAT8) ENSP00000272425.3:p.Ala165Ser
NM_003960.3:c.493G>T (NAT8) NP_003951.3:p.Ala165Ser
NM_003960.4:c.493G>T (NAT8) MANE Select NP_003951.3:p.Ala165Ser