MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00128456 (AMR)
Genomes Max Group AF
0.00050745 (EAS)
Exomes Max Group AF
0.00203115 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233671817dup , CM000664.2:g.233671817dup | GRCh38 |
| NC_000002.11:g.234580463dup , CM000664.1:g.234580463dup | GRCh37 |
| NC_000002.10:g.234245202dup | NCBI36 |
| NG_002601.2:g.87074dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344644.10:c.855+34440dup (UGT1A10) MANE Select | ENSP00000343838.5:n.855+34440dup | |
| ENST00000373450.5:c.855+53255dup (UGT1A8) MANE Select | ENSP00000362549.4:n.855+53255dup | |
| ENST00000344644.9:c.855+34440dup (UGT1A10) | ENSP00000343838.5:n.855+34440dup | |
| ENST00000373445.1:c.855+34440dup (UGT1A10) | ENSP00000362544.1:n.855+34440dup | |
| ENST00000373450.4:c.855+53255dup (UGT1A8) | ENSP00000362549.4:n.855+53255dup | |
| NM_019075.2:c.855+34440dup (UGT1A10) | NP_061948.1:n.855+34440dup | |
| NM_019076.4:c.855+53255dup (UGT1A8) | NP_061949.3:n.855+53255dup | |
| NM_019075.4:c.855+34440dup (UGT1A10) MANE Select | NP_061948.1:n.855+34440dup | |
| NM_019076.5:c.855+53255dup (UGT1A8) MANE Select | NP_061949.3:n.855+53255dup |