Canonical Allele Identifier: CA1715698
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2378787
ClinVar RCV Id: RCV004216198
dbSNP Id: rs146954600
ExAC: 2:73868308 G / C
gnomAD v2: 2-73868308-G-C
gnomAD v3: 2-73641181-G-C
gnomAD v4: 2-73641181-G-C
MyVariant Identifiers: chr2:g.73868308G>C (hg19) chr2:g.73641181G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641181G>C , CM000664.2:g.73641181G>C GRCh38
NC_000002.11:g.73868308G>C , CM000664.1:g.73868308G>C GRCh37
NC_000002.10:g.73721816G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.448C>G (NAT8) MANE Select ENSP00000272425.3:p.Arg150Gly
ENST00000652439.1:n.99G>C (ALMS1P1)
ENST00000272425.3:c.448C>G (NAT8) ENSP00000272425.3:p.Arg150Gly
NM_003960.3:c.448C>G (NAT8) NP_003951.3:p.Arg150Gly
NM_003960.4:c.448C>G (NAT8) MANE Select NP_003951.3:p.Arg150Gly
Search 100 bp 5'
Search 100 bp 3'