Linked Data
ClinVar Variation Id:
218787
ClinVar RCV Id:
RCV000202759
dbSNP Id:
rs45454101
gnomAD v2:
2-234627263-G-A
gnomAD v3:
2-233718617-G-A
gnomAD v4:
2-233718617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233718617G>A , CM000664.2:g.233718617G>A | GRCh38 |
| NC_000002.11:g.234627263G>A , CM000664.1:g.234627263G>A | GRCh37 |
| NC_000002.10:g.234292002G>A | NCBI36 |
| NG_002601.2:g.133874G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344644.10:c.856-48417G>A (UGT1A10) MANE Select | ENSP00000343838.5:n.856-48417G>A | |
| ENST00000373414.4:c.867+4759G>A (UGT1A5) MANE Select | ENSP00000362513.3:n.867+4759G>A | |
| ENST00000373426.4:c.855+35825G>A (UGT1A7) MANE Select | ENSP00000362525.3:n.855+35825G>A | |
| ENST00000373450.5:c.856-48417G>A (UGT1A8) MANE Select | ENSP00000362549.4:n.856-48417G>A | |
| ENST00000305139.11:c.861+24752G>A (UGT1A6) MANE Select | ENSP00000303174.6:n.861+24752G>A | |
| ENST00000354728.5:c.855+45828G>A (UGT1A9) MANE Select | ENSP00000346768.4:n.855+45828G>A | |
| ENST00000305139.10:c.861+24752G>A (UGT1A6) | ENSP00000303174.6:n.861+24752G>A | |
| ENST00000344644.9:c.856-48417G>A (UGT1A10) | ENSP00000343838.5:n.856-48417G>A | |
| ENST00000354728.4:c.855+45828G>A (UGT1A9) | ENSP00000346768.4:n.855+45828G>A | |
| ENST00000373414.3:c.867+4759G>A | ENSP00000362513.3:n.867+4759G>A | |
| ENST00000373424.5:c.60+24752G>A (UGT1A6) | ENSP00000362523.1:n.60+24752G>A | |
| ENST00000373426.3:c.855+35825G>A (UGT1A7) | ENSP00000362525.3:n.855+35825G>A | |
| ENST00000373445.1:c.856-48417G>A (UGT1A10) | ENSP00000362544.1:n.856-48417G>A | |
| ENST00000373450.4:c.856-48417G>A (UGT1A8) | ENSP00000362549.4:n.856-48417G>A | |
| ENST00000406651.1:c.60+24752G>A (UGT1A6) | ENSP00000386107.1:n.60+24752G>A | |
| ENST00000446481.6:c.60+24752G>A (UGT1A6) | ENSP00000401541.1:n.60+24752G>A | |
| ENST00000478062.2:n.182-10887G>A (UGT1A6) | ||
| ENST00000480628.1:n.186+24752G>A (UGT1A6) | ||
| ENST00000484784.2:c.441+585G>A (UGT1A6) | ENSP00000419780.2:n.441+585G>A | |
| NM_001072.3:c.861+24752G>A (UGT1A6) | NP_001063.2:n.861+24752G>A | |
| NM_019075.2:c.856-48417G>A (UGT1A10) | NP_061948.1:n.856-48417G>A | |
| NM_019076.4:c.856-48417G>A (UGT1A8) | NP_061949.3:n.856-48417G>A | |
| NM_019077.2:c.855+35825G>A (UGT1A7) | NP_061950.2:n.855+35825G>A | |
| NM_019078.1:c.867+4759G>A (UGT1A5) | NP_061951.1:n.867+4759G>A | |
| NM_021027.2:c.855+45828G>A (UGT1A9) | NP_066307.1:n.855+45828G>A | |
| NM_205862.1:c.60+24752G>A (UGT1A6) | NP_995584.1:n.60+24752G>A | |
| NM_001072.4:c.861+24752G>A (UGT1A6) MANE Select | NP_001063.2:n.861+24752G>A | |
| NM_021027.3:c.855+45828G>A (UGT1A9) MANE Select | NP_066307.1:n.855+45828G>A | |
| NM_205862.2:c.60+24752G>A (UGT1A6) | NP_995584.1:n.60+24752G>A | |
| NM_019075.4:c.856-48417G>A (UGT1A10) MANE Select | NP_061948.1:n.856-48417G>A | |
| NM_019076.5:c.856-48417G>A (UGT1A8) MANE Select | NP_061949.3:n.856-48417G>A | |
| NM_019077.3:c.855+35825G>A (UGT1A7) MANE Select | NP_061950.2:n.855+35825G>A | |
| NM_019078.2:c.867+4759G>A (UGT1A5) MANE Select | NP_061951.1:n.867+4759G>A | |
| NM_205862.3:c.60+24752G>A (UGT1A6) | NP_995584.1:n.60+24752G>A |