Linked Data
ClinVar Variation Id:
348026
dbSNP Id:
rs201343910
ExAC:
4:169432720 A / G
gnomAD v2:
4-169432720-A-G
gnomAD v3:
4-168511569-A-G
gnomAD v4:
4-168511569-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168511569A>G , CM000666.2:g.168511569A>G | GRCh38 |
| NC_000004.11:g.169432720A>G , CM000666.1:g.169432720A>G | GRCh37 |
| NC_000004.10:g.169669295A>G | NCBI36 |
| NG_013376.1:g.19504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505667.6:c.65A>G (PALLD) MANE Select | ENSP00000425556.1:p.Lys22Arg | |
| ENST00000261509.10:c.65A>G (PALLD) | ENSP00000261509.6:p.Lys22Arg | |
| ENST00000505150.5:n.289-18684T>C (DDX60L) | ||
| ENST00000505667.5:c.65A>G (PALLD) | ENSP00000425556.1:p.Lys22Arg | |
| ENST00000508898.5:c.2A>G (PALLD) | ENSP00000423063.1:p.Lys1Arg | |
| ENST00000511948.1:c.65A>G (PALLD) | ENSP00000423640.1:p.Lys22Arg | |
| ENST00000512958.1:n.50-5436T>C (DDX60L) | ||
| NM_001166108.1:c.65A>G (PALLD) | NP_001159580.1:p.Lys22Arg | |
| NM_016081.3:c.65A>G (PALLD) | NP_057165.3:p.Lys22Arg | |
| XM_005262861.3:c.65A>G (PALLD) | XP_005262918.1:p.Lys22Arg | |
| XM_011531768.1:c.269A>G (PALLD) | XP_011530070.1:p.Lys90Arg | |
| XM_011531769.1:c.269A>G (PALLD) | XP_011530071.1:p.Lys90Arg | |
| XM_011531770.1:c.269A>G (PALLD) | XP_011530072.1:p.Lys90Arg | |
| XM_011531771.1:c.269A>G (PALLD) | XP_011530073.1:p.Lys90Arg | |
| XM_011531772.1:c.269A>G (PALLD) | XP_011530074.1:p.Lys90Arg | |
| XM_011531773.1:c.269A>G (PALLD) | XP_011530075.1:p.Lys90Arg | |
| XM_011531774.1:c.269A>G (PALLD) | XP_011530076.1:p.Lys90Arg | |
| XM_005262861.4:c.65A>G (PALLD) | XP_005262918.1:p.Lys22Arg | |
| XM_011531768.2:c.269A>G (PALLD) | XP_011530070.1:p.Lys90Arg | |
| XM_011531769.2:c.269A>G (PALLD) | XP_011530071.1:p.Lys90Arg | |
| XM_011531770.2:c.269A>G (PALLD) | XP_011530072.1:p.Lys90Arg | |
| XM_011531771.2:c.269A>G (PALLD) | XP_011530073.1:p.Lys90Arg | |
| XM_011531772.2:c.269A>G (PALLD) | XP_011530074.1:p.Lys90Arg | |
| XM_017007910.1:c.269A>G (PALLD) | XP_016863399.1:p.Lys90Arg | |
| XM_017007911.1:c.269A>G (PALLD) | XP_016863400.1:p.Lys90Arg | |
| XR_001741448.2:n.1833-18684T>C | ||
| NM_001166108.2:c.65A>G (PALLD) MANE Select | NP_001159580.1:p.Lys22Arg | |
| NM_016081.4:c.65A>G (PALLD) | NP_057165.3:p.Lys22Arg |