Canonical Allele Identifier: CA347287421
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1358687724
gnomAD v2: 2-73868340-A-T
gnomAD v4: 2-73641213-A-T
MyVariant Identifiers: chr2:g.73868340A>T (hg19) chr2:g.73641213A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641213A>T , CM000664.2:g.73641213A>T GRCh38
NC_000002.11:g.73868340A>T , CM000664.1:g.73868340A>T GRCh37
NC_000002.10:g.73721848A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000272425.4:c.416T>A (NAT8) MANE Select ENSP00000272425.3:p.Leu139Gln
ENST00000652439.1:n.131A>T (ALMS1P1)
ENST00000272425.3:c.416T>A (NAT8) ENSP00000272425.3:p.Leu139Gln
NM_003960.3:c.416T>A (NAT8) NP_003951.3:p.Leu139Gln
NM_003960.4:c.416T>A (NAT8) MANE Select NP_003951.3:p.Leu139Gln
Search 100 bp 5'
Search 100 bp 3'