Canonical Allele Identifier: CA347288304
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1338187529
gnomAD v3: 2-73641318-T-G
gnomAD v4: 2-73641318-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641318T>G , CM000664.2:g.73641318T>G GRCh38
NC_000002.11:g.73868445T>G , CM000664.1:g.73868445T>G GRCh37
NC_000002.10:g.73721953T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.311A>C (NAT8) MANE Select ENSP00000272425.3:p.Glu104Ala
ENST00000652439.1:n.236T>G (ALMS1P1)
ENST00000272425.3:c.311A>C (NAT8) ENSP00000272425.3:p.Glu104Ala
NM_003960.3:c.311A>C (NAT8) NP_003951.3:p.Glu104Ala
NM_003960.4:c.311A>C (NAT8) MANE Select NP_003951.3:p.Glu104Ala