Canonical Allele Identifier: CA1715732
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3176426
ClinVar RCV Id: RCV004472302
dbSNP Id: rs764754413
ExAC: 2:73868443 G / A
gnomAD v2: 2-73868443-G-A
gnomAD v3: 2-73641316-G-A
gnomAD v4: 2-73641316-G-A
MyVariant Identifiers: chr2:g.73868443G>A (hg19) chr2:g.73641316G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641316G>A , CM000664.2:g.73641316G>A GRCh38
NC_000002.11:g.73868443G>A , CM000664.1:g.73868443G>A GRCh37
NC_000002.10:g.73721951G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.313C>T (NAT8) MANE Select ENSP00000272425.3:p.Arg105Cys
ENST00000652439.1:n.234G>A (ALMS1P1)
ENST00000272425.3:c.313C>T (NAT8) ENSP00000272425.3:p.Arg105Cys
NM_003960.3:c.313C>T (NAT8) NP_003951.3:p.Arg105Cys
NM_003960.4:c.313C>T (NAT8) MANE Select NP_003951.3:p.Arg105Cys
Search 100 bp 5'
Search 100 bp 3'