Linked Data
dbSNP Id:
rs1322189342
gnomAD v2:
2-234548726-C-A
gnomAD v3:
2-233640080-C-A
gnomAD v4:
2-233640080-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233640080C>A , CM000664.2:g.233640080C>A | GRCh38 |
| NC_000002.11:g.234548726C>A , CM000664.1:g.234548726C>A | GRCh37 |
| NC_000002.10:g.234213465C>A | NCBI36 |
| NG_002601.2:g.55337C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344644.10:c.855+2703C>A (UGT1A10) MANE Select | ENSP00000343838.5:n.855+2703C>A | |
| ENST00000373450.5:c.855+21518C>A (UGT1A8) MANE Select | ENSP00000362549.4:n.855+21518C>A | |
| ENST00000344644.9:c.855+2703C>A (UGT1A10) | ENSP00000343838.5:n.855+2703C>A | |
| ENST00000373445.1:c.855+2703C>A (UGT1A10) | ENSP00000362544.1:n.855+2703C>A | |
| ENST00000373450.4:c.855+21518C>A (UGT1A8) | ENSP00000362549.4:n.855+21518C>A | |
| NM_019075.2:c.855+2703C>A (UGT1A10) | NP_061948.1:n.855+2703C>A | |
| NM_019076.4:c.855+21518C>A (UGT1A8) | NP_061949.3:n.855+21518C>A | |
| NM_019075.4:c.855+2703C>A (UGT1A10) MANE Select | NP_061948.1:n.855+2703C>A | |
| NM_019076.5:c.855+21518C>A (UGT1A8) MANE Select | NP_061949.3:n.855+21518C>A |