Linked Data
dbSNP Id:
rs1227040753
gnomAD v2:
2-234590873-G-A
gnomAD v3:
2-233682227-G-A
gnomAD v4:
2-233682227-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233682227G>A , CM000664.2:g.233682227G>A | GRCh38 |
| NC_000002.11:g.234590873G>A , CM000664.1:g.234590873G>A | GRCh37 |
| NC_000002.10:g.234255612G>A | NCBI36 |
| NG_002601.2:g.97484G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344644.10:c.855+44850G>A (UGT1A10) MANE Select | ENSP00000343838.5:n.855+44850G>A | |
| ENST00000373426.4:c.290G>A (UGT1A7) MANE Select | ENSP00000362525.3:p.Arg97His | |
| ENST00000373450.5:c.855+63665G>A (UGT1A8) MANE Select | ENSP00000362549.4:n.855+63665G>A | |
| ENST00000354728.5:c.855+9438G>A (UGT1A9) MANE Select | ENSP00000346768.4:n.855+9438G>A | |
| ENST00000344644.9:c.855+44850G>A (UGT1A10) | ENSP00000343838.5:n.855+44850G>A | |
| ENST00000354728.4:c.855+9438G>A (UGT1A9) | ENSP00000346768.4:n.855+9438G>A | |
| ENST00000373426.3:c.290G>A (UGT1A7) | ENSP00000362525.3:p.Arg97His | |
| ENST00000373445.1:c.855+44850G>A (UGT1A10) | ENSP00000362544.1:n.855+44850G>A | |
| ENST00000373450.4:c.855+63665G>A (UGT1A8) | ENSP00000362549.4:n.855+63665G>A | |
| NM_019075.2:c.855+44850G>A (UGT1A10) | NP_061948.1:n.855+44850G>A | |
| NM_019076.4:c.855+63665G>A (UGT1A8) | NP_061949.3:n.855+63665G>A | |
| NM_019077.2:c.290G>A (UGT1A7) | NP_061950.2:p.Arg97His | |
| NM_021027.2:c.855+9438G>A (UGT1A9) | NP_066307.1:n.855+9438G>A | |
| NM_021027.3:c.855+9438G>A (UGT1A9) MANE Select | NP_066307.1:n.855+9438G>A | |
| NM_019075.4:c.855+44850G>A (UGT1A10) MANE Select | NP_061948.1:n.855+44850G>A | |
| NM_019076.5:c.855+63665G>A (UGT1A8) MANE Select | NP_061949.3:n.855+63665G>A | |
| NM_019077.3:c.290G>A (UGT1A7) MANE Select | NP_061950.2:p.Arg97His |