Linked Data
ClinVar Variation Id:
2520043
ClinVar RCV Id:
RCV003270552
dbSNP Id:
rs759716033
ExAC:
2:234581349 T / G
gnomAD v2:
2-234581349-T-G
gnomAD v4:
2-233672703-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233672703T>G , CM000664.2:g.233672703T>G | GRCh38 |
| NC_000002.11:g.234581349T>G , CM000664.1:g.234581349T>G | GRCh37 |
| NC_000002.10:g.234246088T>G | NCBI36 |
| NG_002601.2:g.87960T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344644.10:c.855+35326T>G (UGT1A10) MANE Select | ENSP00000343838.5:n.855+35326T>G | |
| ENST00000373450.5:c.855+54141T>G (UGT1A8) MANE Select | ENSP00000362549.4:n.855+54141T>G | |
| ENST00000354728.5:c.769T>G (UGT1A9) MANE Select | ENSP00000346768.4:p.Phe257Val | |
| ENST00000344644.9:c.855+35326T>G (UGT1A10) | ENSP00000343838.5:n.855+35326T>G | |
| ENST00000354728.4:c.769T>G (UGT1A9) | ENSP00000346768.4:p.Phe257Val | |
| ENST00000373445.1:c.855+35326T>G (UGT1A10) | ENSP00000362544.1:n.855+35326T>G | |
| ENST00000373450.4:c.855+54141T>G (UGT1A8) | ENSP00000362549.4:n.855+54141T>G | |
| NM_019075.2:c.855+35326T>G (UGT1A10) | NP_061948.1:n.855+35326T>G | |
| NM_019076.4:c.855+54141T>G (UGT1A8) | NP_061949.3:n.855+54141T>G | |
| NM_021027.2:c.769T>G (UGT1A9) | NP_066307.1:p.Phe257Val | |
| NM_021027.3:c.769T>G (UGT1A9) MANE Select | NP_066307.1:p.Phe257Val | |
| NM_019075.4:c.855+35326T>G (UGT1A10) MANE Select | NP_061948.1:n.855+35326T>G | |
| NM_019076.5:c.855+54141T>G (UGT1A8) MANE Select | NP_061949.3:n.855+54141T>G |