Canonical Allele Identifier: CA347289959
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1320439322
gnomAD v3: 2-73641367-T-C
gnomAD v4: 2-73641367-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641367T>C , CM000664.2:g.73641367T>C GRCh38
NC_000002.11:g.73868494T>C , CM000664.1:g.73868494T>C GRCh37
NC_000002.10:g.73722002T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.262A>G (NAT8) MANE Select ENSP00000272425.3:p.Met88Val
ENST00000652439.1:n.243+42T>C (ALMS1P1)
ENST00000272425.3:c.262A>G (NAT8) ENSP00000272425.3:p.Met88Val
NM_003960.3:c.262A>G (NAT8) NP_003951.3:p.Met88Val
NM_003960.4:c.262A>G (NAT8) MANE Select NP_003951.3:p.Met88Val