Canonical Allele Identifier: CA347290039
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1186959139
gnomAD v2: 2-73868504-C-G
gnomAD v4: 2-73641377-C-G
COSMIC: COSM375321

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641377C>G , CM000664.2:g.73641377C>G GRCh38
NC_000002.11:g.73868504C>G , CM000664.1:g.73868504C>G GRCh37
NC_000002.10:g.73722012C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.252G>C (NAT8) MANE Select ENSP00000272425.3:p.Glu84Asp
ENST00000652439.1:n.243+52C>G (ALMS1P1)
ENST00000272425.3:c.252G>C (NAT8) ENSP00000272425.3:p.Glu84Asp
NM_003960.3:c.252G>C (NAT8) NP_003951.3:p.Glu84Asp
NM_003960.4:c.252G>C (NAT8) MANE Select NP_003951.3:p.Glu84Asp