Canonical Allele Identifier: CA347289824
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1241989743
gnomAD v2: 2-73868481-G-C
gnomAD v3: 2-73641354-G-C
gnomAD v4: 2-73641354-G-C
MyVariant Identifiers: chr2:g.73868481G>C (hg19) chr2:g.73641354G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641354G>C , CM000664.2:g.73641354G>C GRCh38
NC_000002.11:g.73868481G>C , CM000664.1:g.73868481G>C GRCh37
NC_000002.10:g.73721989G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.275C>G (NAT8) MANE Select ENSP00000272425.3:p.Thr92Arg
ENST00000652439.1:n.243+29G>C (ALMS1P1)
ENST00000272425.3:c.275C>G (NAT8) ENSP00000272425.3:p.Thr92Arg
NM_003960.3:c.275C>G (NAT8) NP_003951.3:p.Thr92Arg
NM_003960.4:c.275C>G (NAT8) MANE Select NP_003951.3:p.Thr92Arg
Search 100 bp 5'
Search 100 bp 3'