COSMIC:
COSN19660875 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41085209 (SAS)
Genomes Max Group AF
0.39719517 (SAS)
Exomes Max Group AF
0.41087998 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233681881T>G , CM000664.2:g.233681881T>G | GRCh38 |
| NC_000002.11:g.234590527T>G , CM000664.1:g.234590527T>G | GRCh37 |
| NC_000002.10:g.234255266T>G | NCBI36 |
| NG_002601.2:g.97138T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344644.10:c.855+44504T>G (UGT1A10) MANE Select | ENSP00000343838.5:n.855+44504T>G | |
| ENST00000373450.5:c.855+63319T>G (UGT1A8) MANE Select | ENSP00000362549.4:n.855+63319T>G | |
| ENST00000354728.5:c.855+9092T>G (UGT1A9) MANE Select | ENSP00000346768.4:n.855+9092T>G | |
| ENST00000344644.9:c.855+44504T>G (UGT1A10) | ENSP00000343838.5:n.855+44504T>G | |
| ENST00000354728.4:c.855+9092T>G (UGT1A9) | ENSP00000346768.4:n.855+9092T>G | |
| ENST00000373445.1:c.855+44504T>G (UGT1A10) | ENSP00000362544.1:n.855+44504T>G | |
| ENST00000373450.4:c.855+63319T>G (UGT1A8) | ENSP00000362549.4:n.855+63319T>G | |
| NM_019075.2:c.855+44504T>G (UGT1A10) | NP_061948.1:n.855+44504T>G | |
| NM_019076.4:c.855+63319T>G (UGT1A8) | NP_061949.3:n.855+63319T>G | |
| NM_021027.2:c.855+9092T>G (UGT1A9) | NP_066307.1:n.855+9092T>G | |
| NM_021027.3:c.855+9092T>G (UGT1A9) MANE Select | NP_066307.1:n.855+9092T>G | |
| NM_019075.4:c.855+44504T>G (UGT1A10) MANE Select | NP_061948.1:n.855+44504T>G | |
| NM_019076.5:c.855+63319T>G (UGT1A8) MANE Select | NP_061949.3:n.855+63319T>G |