Canonical Allele Identifier: CA50371195
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs779891010
gnomAD v4: 2-73641127-G-A
MyVariant Identifiers: chr2:g.73868254G>A (hg19) chr2:g.73641127G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641127G>A , CM000664.2:g.73641127G>A GRCh38
NC_000002.11:g.73868254G>A , CM000664.1:g.73868254G>A GRCh37
NC_000002.10:g.73721762G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.502C>T (NAT8) MANE Select ENSP00000272425.3:p.Gln168Ter
ENST00000652439.1:n.45G>A (ALMS1P1)
ENST00000272425.3:c.502C>T (NAT8) ENSP00000272425.3:p.Gln168Ter
NM_003960.3:c.502C>T (NAT8) NP_003951.3:p.Gln168Ter
NM_003960.4:c.502C>T (NAT8) MANE Select NP_003951.3:p.Gln168Ter
Search 100 bp 5'
Search 100 bp 3'