Canonical Allele Identifier: CA1715733
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs753172319
ExAC: 2:73868444 C / G
gnomAD v2: 2-73868444-C-G
gnomAD v3: 2-73641317-C-G
gnomAD v4: 2-73641317-C-G
MyVariant Identifiers: chr2:g.73868444C>G (hg19) chr2:g.73641317C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641317C>G , CM000664.2:g.73641317C>G GRCh38
NC_000002.11:g.73868444C>G , CM000664.1:g.73868444C>G GRCh37
NC_000002.10:g.73721952C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.312G>C (NAT8) MANE Select ENSP00000272425.3:p.Glu104Asp
ENST00000652439.1:n.235C>G (ALMS1P1)
ENST00000272425.3:c.312G>C (NAT8) ENSP00000272425.3:p.Glu104Asp
NM_003960.3:c.312G>C (NAT8) NP_003951.3:p.Glu104Asp
NM_003960.4:c.312G>C (NAT8) MANE Select NP_003951.3:p.Glu104Asp
Search 100 bp 5'
Search 100 bp 3'