Canonical Allele Identifier: CA347287861
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

gnomAD v4: 2-73641270-C-T
COSMIC: COSM4095662
MyVariant Identifiers: chr2:g.73868397C>T (hg19) chr2:g.73641270C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641270C>T , CM000664.2:g.73641270C>T GRCh38
NC_000002.11:g.73868397C>T , CM000664.1:g.73868397C>T GRCh37
NC_000002.10:g.73721905C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.359G>A (NAT8) MANE Select ENSP00000272425.3:p.Gly120Asp
ENST00000652439.1:n.188C>T (ALMS1P1)
ENST00000272425.3:c.359G>A (NAT8) ENSP00000272425.3:p.Gly120Asp
NM_003960.3:c.359G>A (NAT8) NP_003951.3:p.Gly120Asp
NM_003960.4:c.359G>A (NAT8) MANE Select NP_003951.3:p.Gly120Asp
Search 100 bp 5'
Search 100 bp 3'