Canonical Allele Identifier: CA347287533
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

gnomAD v4: 2-73641233-C-G
MyVariant Identifiers: chr2:g.73868360C>G (hg19) chr2:g.73641233C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641233C>G , CM000664.2:g.73641233C>G GRCh38
NC_000002.11:g.73868360C>G , CM000664.1:g.73868360C>G GRCh37
NC_000002.10:g.73721868C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.396G>C (NAT8) MANE Select ENSP00000272425.3:p.Leu132Phe
ENST00000652439.1:n.151C>G (ALMS1P1)
ENST00000272425.3:c.396G>C (NAT8) ENSP00000272425.3:p.Leu132Phe
NM_003960.3:c.396G>C (NAT8) NP_003951.3:p.Leu132Phe
NM_003960.4:c.396G>C (NAT8) MANE Select NP_003951.3:p.Leu132Phe
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