Linked Data
dbSNP Id:
rs748048542
ExAC:
2:73868485 A / C
gnomAD v2:
2-73868485-A-C
gnomAD v4:
2-73641358-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641358A>C , CM000664.2:g.73641358A>C | GRCh38 |
| NC_000002.11:g.73868485A>C , CM000664.1:g.73868485A>C | GRCh37 |
| NC_000002.10:g.73721993A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.271T>G (NAT8) MANE Select | ENSP00000272425.3:p.Cys91Gly | |
| ENST00000652439.1:n.243+33A>C (ALMS1P1) | ||
| ENST00000272425.3:c.271T>G (NAT8) | ENSP00000272425.3:p.Cys91Gly | |
| NM_003960.3:c.271T>G (NAT8) | NP_003951.3:p.Cys91Gly | |
| NM_003960.4:c.271T>G (NAT8) MANE Select | NP_003951.3:p.Cys91Gly |