Canonical Allele Identifier: CA1715739
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2396869
ClinVar RCV Id: RCV004226593
dbSNP Id: rs150075600
ExAC: 2:73868474 C / T
gnomAD v2: 2-73868474-C-T
gnomAD v3: 2-73641347-C-T
gnomAD v4: 2-73641347-C-T
MyVariant Identifiers: chr2:g.73868474C>T (hg19) chr2:g.73641347C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641347C>T , CM000664.2:g.73641347C>T GRCh38
NC_000002.11:g.73868474C>T , CM000664.1:g.73868474C>T GRCh37
NC_000002.10:g.73721982C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.282G>A (NAT8) MANE Select ENSP00000272425.3:p.Met94Ile
ENST00000652439.1:n.243+22C>T (ALMS1P1)
ENST00000272425.3:c.282G>A (NAT8) ENSP00000272425.3:p.Met94Ile
NM_003960.3:c.282G>A (NAT8) NP_003951.3:p.Met94Ile
NM_003960.4:c.282G>A (NAT8) MANE Select NP_003951.3:p.Met94Ile
Search 100 bp 5'
Search 100 bp 3'