Linked Data
ClinVar Variation Id:
2273764
ClinVar RCV Id:
RCV004128208
dbSNP Id:
rs867033767
gnomAD v4:
2-73641102-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641102T>C , CM000664.2:g.73641102T>C | GRCh38 |
| NC_000002.11:g.73868229T>C , CM000664.1:g.73868229T>C | GRCh37 |
| NC_000002.10:g.73721737T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.527A>G (NAT8) MANE Select | ENSP00000272425.3:p.Asp176Gly | |
| ENST00000652439.1:n.20T>C (ALMS1P1) | ||
| ENST00000272425.3:c.527A>G (NAT8) | ENSP00000272425.3:p.Asp176Gly | |
| NM_003960.3:c.527A>G (NAT8) | NP_003951.3:p.Asp176Gly | |
| NM_003960.4:c.527A>G (NAT8) MANE Select | NP_003951.3:p.Asp176Gly |