Canonical Allele Identifier: CA347287565
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1262982299
gnomAD v2: 2-73868367-G-A
gnomAD v4: 2-73641240-G-A
MyVariant Identifiers: chr2:g.73868367G>A (hg19) chr2:g.73641240G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641240G>A , CM000664.2:g.73641240G>A GRCh38
NC_000002.11:g.73868367G>A , CM000664.1:g.73868367G>A GRCh37
NC_000002.10:g.73721875G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.389C>T (NAT8) MANE Select ENSP00000272425.3:p.Pro130Leu
ENST00000652439.1:n.158G>A (ALMS1P1)
ENST00000272425.3:c.389C>T (NAT8) ENSP00000272425.3:p.Pro130Leu
NM_003960.3:c.389C>T (NAT8) NP_003951.3:p.Pro130Leu
NM_003960.4:c.389C>T (NAT8) MANE Select NP_003951.3:p.Pro130Leu
Search 100 bp 5'
Search 100 bp 3'