gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168928238C>T , CM000666.2:g.168928238C>T | GRCh38 |
| NC_000004.11:g.169849389C>T , CM000666.1:g.169849389C>T | GRCh37 |
| NC_000004.10:g.170085964C>T | NCBI36 |
| NG_013376.1:g.436173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704822.1:c.*1853C>T (PALLD) | ENSP00000516055.1:n.*1853C>T | |
| ENST00000505667.6:c.*2058C>T (PALLD) MANE Select | ENSP00000425556.1:n.*2058C>T | |
| ENST00000507735.6:c.*1853C>T (PALLD) | ENSP00000424016.1:n.*1853C>T | |
| ENST00000261509.10:c.*2058C>T (PALLD) | ENSP00000261509.6:n.*2058C>T | |
| ENST00000507699.1:n.3650C>T (PALLD) | ||
| ENST00000507735.5:c.*1853C>T (PALLD) | ENSP00000424016.1:n.*1853C>T | |
| ENST00000509108.1:n.170-33473G>A (CBR4) | ||
| ENST00000510042.5:c.*259-33473G>A (CBR4) | ENSP00000424717.1:n.*259-33473G>A | |
| NM_001166108.1:c.*2058C>T (PALLD) | NP_001159580.1:n.*2058C>T | |
| NM_001166109.1:c.*1853C>T (PALLD) | NP_001159581.1:n.*1853C>T | |
| NM_001166110.1:c.*1853C>T (PALLD) | NP_001159582.1:n.*1853C>T | |
| NM_016081.3:c.*2058C>T (PALLD) | NP_057165.3:n.*2058C>T | |
| XM_005262861.3:c.*1853C>T (PALLD) | XP_005262918.1:n.*1853C>T | |
| XM_005262866.2:c.*1853C>T (PALLD) | XP_005262923.1:n.*1853C>T | |
| XM_005263315.1:c.536-33473G>A (CBR4) | XP_005263372.1:n.536-33473G>A | |
| XM_011531768.1:c.*1853C>T (PALLD) | XP_011530070.1:n.*1853C>T | |
| XM_011531769.1:c.*1853C>T (PALLD) | XP_011530071.1:n.*1853C>T | |
| XM_011531770.1:c.*2058C>T (PALLD) | XP_011530072.1:n.*2058C>T | |
| XM_011531771.1:c.*1853C>T (PALLD) | XP_011530073.1:n.*1853C>T | |
| XM_011531772.1:c.*1853C>T (PALLD) | XP_011530074.1:n.*1853C>T | |
| XM_011531773.1:c.*1853C>T (PALLD) | XP_011530075.1:n.*1853C>T | |
| XM_011531774.1:c.*1853C>T (PALLD) | XP_011530076.1:n.*1853C>T | |
| XM_011531775.1:c.*1853C>T (PALLD) | XP_011530077.1:n.*1853C>T | |
| XM_011531776.1:c.*1853C>T (PALLD) | XP_011530078.1:n.*1853C>T | |
| XR_938789.1:n.901+299G>A (CBR4) | ||
| XM_005262861.4:c.*1853C>T (PALLD) | XP_005262918.1:n.*1853C>T | |
| XM_005263315.3:c.536-33473G>A (CBR4) | XP_005263372.1:n.536-33473G>A | |
| XM_011531768.2:c.*1853C>T (PALLD) | XP_011530070.1:n.*1853C>T | |
| XM_011531769.2:c.*1853C>T (PALLD) | XP_011530071.1:n.*1853C>T | |
| XM_011531770.2:c.*2058C>T (PALLD) | XP_011530072.1:n.*2058C>T | |
| XM_011531771.2:c.*1853C>T (PALLD) | XP_011530073.1:n.*1853C>T | |
| XM_011531772.2:c.*1853C>T (PALLD) | XP_011530074.1:n.*1853C>T | |
| XM_017007910.1:c.*2058C>T (PALLD) | XP_016863399.1:n.*2058C>T | |
| XM_017008782.1:c.566-33473G>A (CBR4) | XP_016864271.1:n.566-33473G>A | |
| XM_017008783.2:c.*414G>A (CBR4) | XP_016864272.1:n.*414G>A | |
| XM_024453939.1:c.*1853C>T (PALLD) | XP_024309707.1:n.*1853C>T | |
| XM_024453940.1:c.*1853C>T (PALLD) | XP_024309708.1:n.*1853C>T | |
| XR_001741341.1:n.901+299G>A (CBR4) | ||
| NM_001166108.2:c.*2058C>T (PALLD) MANE Select | NP_001159580.1:n.*2058C>T | |
| NM_001367567.1:c.*2058C>T (PALLD) | NP_001354496.1:n.*2058C>T | |
| NM_001367568.1:c.*1853C>T (PALLD) | NP_001354497.1:n.*1853C>T | |
| NM_001367569.1:c.*1853C>T (PALLD) | NP_001354498.1:n.*1853C>T | |
| NM_001367570.1:c.*2058C>T (PALLD) | NP_001354499.1:n.*2058C>T | |
| NM_001166109.2:c.*1853C>T (PALLD) | NP_001159581.1:n.*1853C>T | |
| NM_001166110.2:c.*1853C>T (PALLD) | NP_001159582.1:n.*1853C>T | |
| NM_016081.4:c.*2058C>T (PALLD) | NP_057165.3:n.*2058C>T |