Linked Data
ClinVar Variation Id:
260374
dbSNP Id:
rs141536395
ExAC:
12:64202766 A / G
gnomAD v2:
12-64202766-A-G
gnomAD v3:
12-63808986-A-G
gnomAD v4:
12-63808986-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63808986A>G , CM000674.2:g.63808986A>G | GRCh38 |
| NC_000012.11:g.64202766A>G , CM000674.1:g.64202766A>G | GRCh37 |
| NC_000012.10:g.62489033A>G | NCBI36 |
| NG_033244.1:g.34184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537373.6:c.*961A>G (RXYLT1) | ENSP00000440280.2:n.*961A>G | |
| ENST00000685296.1:c.*2769A>G (RXYLT1) | ENSP00000508796.1:n.*2769A>G | |
| ENST00000687087.1:c.*885A>G (RXYLT1) | ENSP00000510657.1:n.*885A>G | |
| ENST00000690060.1:c.*775A>G (RXYLT1) | ENSP00000508435.1:n.*775A>G | |
| ENST00000691840.1:n.1962A>G (RXYLT1) | ||
| ENST00000692910.1:c.*1218A>G (RXYLT1) | ENSP00000509763.1:n.*1218A>G | |
| ENST00000693579.1:c.*1169A>G (RXYLT1) | ENSP00000510692.1:n.*1169A>G | |
| ENST00000261234.11:c.1226A>G (RXYLT1) MANE Select | ENSP00000261234.6:p.Glu409Gly | |
| ENST00000261234.10:c.1226A>G (RXYLT1) | ENSP00000261234.6:p.Glu409Gly | |
| ENST00000537373.5:c.446A>G (RXYLT1) | ENSP00000440280.1:p.Glu149Gly | |
| ENST00000543342.5:c.*1027A>G (RXYLT1) | ENSP00000440845.1:n.*1027A>G | |
| ENST00000623171.1:n.4036A>G (RXYLT1) | ||
| NM_001278237.1:c.446A>G (RXYLT1) | NP_001265166.1:p.Glu149Gly | |
| NM_014254.2:c.1226A>G (RXYLT1) | NP_055069.1:p.Glu409Gly | |
| NR_126167.1:n.468-46T>C (RXYLT1-AS1) | ||
| XM_005268562.2:c.917A>G (RXYLT1) | XP_005268619.1:p.Glu306Gly | |
| XM_005268563.2:c.917A>G (RXYLT1) | XP_005268620.1:p.Glu306Gly | |
| XM_005268562.3:c.917A>G (RXYLT1) | XP_005268619.1:p.Glu306Gly | |
| XM_005268563.3:c.917A>G (RXYLT1) | XP_005268620.1:p.Glu306Gly | |
| XM_017018686.1:c.446A>G (RXYLT1) | XP_016874175.1:p.Glu149Gly | |
| XM_017018687.1:c.446A>G (RXYLT1) | XP_016874176.1:p.Glu149Gly | |
| XR_001748549.1:n.1400A>G (RXYLT1) | ||
| NM_014254.3:c.1226A>G (RXYLT1) MANE Select | NP_055069.1:p.Glu409Gly | |
| NM_001278237.2:c.446A>G (RXYLT1) | NP_001265166.1:p.Glu149Gly |