Linked Data
ClinVar Variation Id:
198206
dbSNP Id:
rs1876465
ExAC:
12:64202890 C / G
gnomAD v2:
12-64202890-C-G
gnomAD v3:
12-63809110-C-G
gnomAD v4:
12-63809110-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63809110C>G , CM000674.2:g.63809110C>G | GRCh38 |
| NC_000012.11:g.64202890C>G , CM000674.1:g.64202890C>G | GRCh37 |
| NC_000012.10:g.62489157C>G | NCBI36 |
| NG_033244.1:g.34308C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537373.6:c.*1085C>G (RXYLT1) | ENSP00000440280.2:n.*1085C>G | |
| ENST00000685296.1:c.*2893C>G (RXYLT1) | ENSP00000508796.1:n.*2893C>G | |
| ENST00000687087.1:c.*1009C>G (RXYLT1) | ENSP00000510657.1:n.*1009C>G | |
| ENST00000690060.1:c.*899C>G (RXYLT1) | ENSP00000508435.1:n.*899C>G | |
| ENST00000691840.1:n.2086C>G (RXYLT1) | ||
| ENST00000692910.1:c.*1342C>G (RXYLT1) | ENSP00000509763.1:n.*1342C>G | |
| ENST00000693579.1:c.*1293C>G (RXYLT1) | ENSP00000510692.1:n.*1293C>G | |
| ENST00000261234.11:c.*18C>G (RXYLT1) MANE Select | ENSP00000261234.6:n.*18C>G | |
| ENST00000261234.10:c.*18C>G (RXYLT1) | ENSP00000261234.6:n.*18C>G | |
| ENST00000537373.5:c.*18C>G (RXYLT1) | ENSP00000440280.1:n.*18C>G | |
| ENST00000623171.1:n.4160C>G (RXYLT1) | ||
| NM_001278237.1:c.*18C>G (RXYLT1) | NP_001265166.1:n.*18C>G | |
| NM_014254.2:c.*18C>G (RXYLT1) | NP_055069.1:n.*18C>G | |
| NR_126167.1:n.468-170G>C (RXYLT1-AS1) | ||
| XM_005268562.2:c.*18C>G (RXYLT1) | XP_005268619.1:n.*18C>G | |
| XM_005268563.2:c.*18C>G (RXYLT1) | XP_005268620.1:n.*18C>G | |
| XM_005268562.3:c.*18C>G (RXYLT1) | XP_005268619.1:n.*18C>G | |
| XM_005268563.3:c.*18C>G (RXYLT1) | XP_005268620.1:n.*18C>G | |
| XM_017018686.1:c.*18C>G (RXYLT1) | XP_016874175.1:n.*18C>G | |
| XM_017018687.1:c.*18C>G (RXYLT1) | XP_016874176.1:n.*18C>G | |
| XR_001748549.1:n.1524C>G (RXYLT1) | ||
| NM_014254.3:c.*18C>G (RXYLT1) MANE Select | NP_055069.1:n.*18C>G | |
| NM_001278237.2:c.*18C>G (RXYLT1) | NP_001265166.1:n.*18C>G |