Canonical Allele Identifier: CA347287297
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2402290
ClinVar RCV Id: RCV004240910
dbSNP Id: rs1476586085
gnomAD v2: 2-73868311-G-A
gnomAD v3: 2-73641184-G-A
gnomAD v4: 2-73641184-G-A
COSMIC: COSM5471612
MyVariant Identifiers: chr2:g.73868311G>A (hg19) chr2:g.73641184G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641184G>A , CM000664.2:g.73641184G>A GRCh38
NC_000002.11:g.73868311G>A , CM000664.1:g.73868311G>A GRCh37
NC_000002.10:g.73721819G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.445C>T (NAT8) MANE Select ENSP00000272425.3:p.Arg149Cys
ENST00000652439.1:n.102G>A (ALMS1P1)
ENST00000272425.3:c.445C>T (NAT8) ENSP00000272425.3:p.Arg149Cys
NM_003960.3:c.445C>T (NAT8) NP_003951.3:p.Arg149Cys
NM_003960.4:c.445C>T (NAT8) MANE Select NP_003951.3:p.Arg149Cys
Search 100 bp 5'
Search 100 bp 3'