Canonical Allele Identifier: CA427024758
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1197423605
gnomAD v2: 2-73868369-A-G
gnomAD v4: 2-73641242-A-G
MyVariant Identifiers: chr2:g.73868369A>G (hg19) chr2:g.73641242A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641242A>G , CM000664.2:g.73641242A>G GRCh38
NC_000002.11:g.73868369A>G , CM000664.1:g.73868369A>G GRCh37
NC_000002.10:g.73721877A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.387T>C (NAT8) MANE Select ENSP00000272425.3:p.Asp129=
ENST00000652439.1:n.160A>G (ALMS1P1)
ENST00000272425.3:c.387T>C (NAT8) ENSP00000272425.3:p.Asp129=
NM_003960.3:c.387T>C (NAT8) NP_003951.3:p.Asp129=
NM_003960.4:c.387T>C (NAT8) MANE Select NP_003951.3:p.Asp129=
Search 100 bp 5'
Search 100 bp 3'