COSMIC:
COSM5471849 (not active)
COSM5471850 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032437 (AFR)
Genomes Max Group AF
0.00028047 (AFR)
Exomes Max Group AF
0.00028041 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168894570G>A , CM000666.2:g.168894570G>A | GRCh38 |
| NC_000004.11:g.169815721G>A , CM000666.1:g.169815721G>A | GRCh37 |
| NC_000004.10:g.170052296G>A | NCBI36 |
| NG_013376.1:g.402505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704822.1:c.-21-9G>A (PALLD) | ENSP00000516055.1:n.-21-9G>A | |
| ENST00000505667.6:c.2101-9G>A (PALLD) MANE Select | ENSP00000425556.1:n.2101-9G>A | |
| ENST00000507735.6:c.640-9G>A (PALLD) | ENSP00000424016.1:n.640-9G>A | |
| ENST00000261509.10:c.2101-9G>A (PALLD) | ENSP00000261509.6:n.2101-9G>A | |
| ENST00000393726.7:c.-21-9G>A (PALLD) | ENSP00000377327.3:n.-21-9G>A | |
| ENST00000505667.5:c.2101-9G>A (PALLD) | ENSP00000425556.1:n.2101-9G>A | |
| ENST00000507325.5:n.130G>A (PALLD) | ||
| ENST00000507735.5:c.640-9G>A (PALLD) | ENSP00000424016.1:n.640-9G>A | |
| ENST00000509108.1:n.365C>T (CBR4) | ||
| ENST00000510042.5:c.*454C>T (CBR4) | ENSP00000424717.1:n.*454C>T | |
| ENST00000510998.5:c.-21-9G>A (PALLD) | ENSP00000422135.1:n.-21-9G>A | |
| ENST00000511611.1:n.402G>A (PALLD) | ||
| ENST00000512127.5:c.955-9G>A (PALLD) | ENSP00000426947.1:n.955-9G>A | |
| NM_001166108.1:c.2101-9G>A (PALLD) | NP_001159580.1:n.2101-9G>A | |
| NM_001166109.1:c.955-9G>A (PALLD) | NP_001159581.1:n.955-9G>A | |
| NM_001166110.1:c.640-9G>A (PALLD) | NP_001159582.1:n.640-9G>A | |
| NM_016081.3:c.2101-9G>A (PALLD) | NP_057165.3:n.2101-9G>A | |
| XM_005262861.3:c.2773-9G>A (PALLD) | XP_005262918.1:n.2773-9G>A | |
| XM_005262866.2:c.1627-9G>A (PALLD) | XP_005262923.1:n.1627-9G>A | |
| XM_011531768.1:c.2977-9G>A (PALLD) | XP_011530070.1:n.2977-9G>A | |
| XM_011531769.1:c.2977-9G>A (PALLD) | XP_011530071.1:n.2977-9G>A | |
| XM_011531770.1:c.2977-9G>A (PALLD) | XP_011530072.1:n.2977-9G>A | |
| XM_011531771.1:c.2977-9G>A (PALLD) | XP_011530073.1:n.2977-9G>A | |
| XM_011531772.1:c.2976+3513G>A (PALLD) | XP_011530074.1:n.2976+3513G>A | |
| XM_011531773.1:c.2305-9G>A (PALLD) | XP_011530075.1:n.2305-9G>A | |
| XM_011531774.1:c.2305-9G>A (PALLD) | XP_011530076.1:n.2305-9G>A | |
| XM_011531775.1:c.1627-9G>A (PALLD) | XP_011530077.1:n.1627-9G>A | |
| XM_011531776.1:c.1627-9G>A (PALLD) | XP_011530078.1:n.1627-9G>A | |
| XM_005262861.4:c.2773-9G>A (PALLD) | XP_005262918.1:n.2773-9G>A | |
| XM_005263315.3:c.*104C>T (CBR4) | XP_005263372.1:n.*104C>T | |
| XM_011531768.2:c.2977-9G>A (PALLD) | XP_011530070.1:n.2977-9G>A | |
| XM_011531769.2:c.2977-9G>A (PALLD) | XP_011530071.1:n.2977-9G>A | |
| XM_011531770.2:c.2977-9G>A (PALLD) | XP_011530072.1:n.2977-9G>A | |
| XM_011531771.2:c.2977-9G>A (PALLD) | XP_011530073.1:n.2977-9G>A | |
| XM_011531772.2:c.2976+3513G>A (PALLD) | XP_011530074.1:n.2976+3513G>A | |
| XM_017007910.1:c.2977-9G>A (PALLD) | XP_016863399.1:n.2977-9G>A | |
| XM_017008782.1:c.*104C>T (CBR4) | XP_016864271.1:n.*104C>T | |
| XM_024453939.1:c.1627-9G>A (PALLD) | XP_024309707.1:n.1627-9G>A | |
| XM_024453940.1:c.640-9G>A (PALLD) | XP_024309708.1:n.640-9G>A | |
| NM_001166108.2:c.2101-9G>A (PALLD) MANE Select | NP_001159580.1:n.2101-9G>A | |
| NM_001367567.1:c.-21-9G>A (PALLD) | NP_001354496.1:n.-21-9G>A | |
| NM_001367568.1:c.-21-9G>A (PALLD) | NP_001354497.1:n.-21-9G>A | |
| NM_001367569.1:c.-21-9G>A (PALLD) | NP_001354498.1:n.-21-9G>A | |
| NM_001367570.1:c.-21-9G>A (PALLD) | NP_001354499.1:n.-21-9G>A | |
| NM_001166109.2:c.955-9G>A (PALLD) | NP_001159581.1:n.955-9G>A | |
| NM_001166110.2:c.640-9G>A (PALLD) | NP_001159582.1:n.640-9G>A | |
| NM_016081.4:c.2101-9G>A (PALLD) | NP_057165.3:n.2101-9G>A |