Canonical Allele Identifier: CA1715743
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs748048542
ExAC: 2:73868485 A / C
gnomAD v2: 2-73868485-A-C
gnomAD v4: 2-73641358-A-C
MyVariant Identifiers: chr2:g.73868485A>C (hg19) chr2:g.73641358A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641358A>C , CM000664.2:g.73641358A>C GRCh38
NC_000002.11:g.73868485A>C , CM000664.1:g.73868485A>C GRCh37
NC_000002.10:g.73721993A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.271T>G (NAT8) MANE Select ENSP00000272425.3:p.Cys91Gly
ENST00000652439.1:n.243+33A>C (ALMS1P1)
ENST00000272425.3:c.271T>G (NAT8) ENSP00000272425.3:p.Cys91Gly
NM_003960.3:c.271T>G (NAT8) NP_003951.3:p.Cys91Gly
NM_003960.4:c.271T>G (NAT8) MANE Select NP_003951.3:p.Cys91Gly
Search 100 bp 5'
Search 100 bp 3'