Revel Score:
ENST00000261509
0.709
ENST00000335742
0.709
ENST00000505667 (MANE Select)
0.709
ENST00000512127
0.709
ENST00000507735
0.709
ENST00000503290
0.464
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168925003G>C , CM000666.2:g.168925003G>C | GRCh38 |
| NC_000004.11:g.169846154G>C , CM000666.1:g.169846154G>C | GRCh37 |
| NC_000004.10:g.170082729G>C | NCBI36 |
| NG_013376.1:g.432938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704822.1:c.1162G>C (PALLD) | ENSP00000516055.1:p.Asp388His | |
| ENST00000505667.6:c.3283G>C (PALLD) MANE Select | ENSP00000425556.1:p.Asp1095His | |
| ENST00000507735.6:c.1771G>C (PALLD) | ENSP00000424016.1:p.Asp591His | |
| ENST00000261509.10:c.3232G>C (PALLD) | ENSP00000261509.6:p.Asp1078His | |
| ENST00000503290.1:c.392G>C (PALLD) | ||
| ENST00000505667.5:c.3283G>C (PALLD) | ENSP00000425556.1:p.Asp1095His | |
| ENST00000507699.1:n.1549G>C (PALLD) | ||
| ENST00000507735.5:c.1771G>C (PALLD) | ENSP00000424016.1:p.Asp591His | |
| ENST00000509108.1:n.170-30238C>G (CBR4) | ||
| ENST00000510042.5:c.*259-30238C>G (CBR4) | ENSP00000424717.1:n.*259-30238C>G | |
| ENST00000512127.5:c.2086G>C (PALLD) | ENSP00000426947.1:p.Asp696His | |
| NM_001166108.1:c.3283G>C (PALLD) | NP_001159580.1:p.Asp1095His | |
| NM_001166109.1:c.2086G>C (PALLD) | NP_001159581.1:p.Asp696His | |
| NM_001166110.1:c.1771G>C (PALLD) | NP_001159582.1:p.Asp591His | |
| NM_016081.3:c.3232G>C (PALLD) | NP_057165.3:p.Asp1078His | |
| XM_005262861.3:c.3955G>C (PALLD) | XP_005262918.1:p.Asp1319His | |
| XM_005262866.2:c.2809G>C (PALLD) | XP_005262923.1:p.Asp937His | |
| XM_005263315.1:c.536-30238C>G (CBR4) | XP_005263372.1:n.536-30238C>G | |
| XM_011531768.1:c.4159G>C (PALLD) | XP_011530070.1:p.Asp1387His | |
| XM_011531769.1:c.4108G>C (PALLD) | XP_011530071.1:p.Asp1370His | |
| XM_011531770.1:c.4159G>C (PALLD) | XP_011530072.1:p.Asp1387His | |
| XM_011531771.1:c.3886G>C (PALLD) | XP_011530073.1:p.Asp1296His | |
| XM_011531772.1:c.3787G>C (PALLD) | XP_011530074.1:p.Asp1263His | |
| XM_011531773.1:c.3487G>C (PALLD) | XP_011530075.1:p.Asp1163His | |
| XM_011531774.1:c.3436G>C (PALLD) | XP_011530076.1:p.Asp1146His | |
| XM_011531775.1:c.2809G>C (PALLD) | XP_011530077.1:p.Asp937His | |
| XM_011531776.1:c.2809G>C (PALLD) | XP_011530078.1:p.Asp937His | |
| XR_938789.1:n.901+3534C>G (CBR4) | ||
| XM_005262861.4:c.3955G>C (PALLD) | XP_005262918.1:p.Asp1319His | |
| XM_005263315.3:c.536-30238C>G (CBR4) | XP_005263372.1:n.536-30238C>G | |
| XM_011531768.2:c.4159G>C (PALLD) | XP_011530070.1:p.Asp1387His | |
| XM_011531769.2:c.4108G>C (PALLD) | XP_011530071.1:p.Asp1370His | |
| XM_011531770.2:c.4159G>C (PALLD) | XP_011530072.1:p.Asp1387His | |
| XM_011531771.2:c.3886G>C (PALLD) | XP_011530073.1:p.Asp1296His | |
| XM_011531772.2:c.3787G>C (PALLD) | XP_011530074.1:p.Asp1263His | |
| XM_017007910.1:c.4108G>C (PALLD) | XP_016863399.1:p.Asp1370His | |
| XM_017008782.1:c.566-30238C>G (CBR4) | XP_016864271.1:n.566-30238C>G | |
| XM_024453939.1:c.2809G>C (PALLD) | XP_024309707.1:p.Asp937His | |
| XM_024453940.1:c.1822G>C (PALLD) | XP_024309708.1:p.Asp608His | |
| XR_001741341.1:n.901+3534C>G (CBR4) | ||
| NM_001166108.2:c.3283G>C (PALLD) MANE Select | NP_001159580.1:p.Asp1095His | |
| NM_001367567.1:c.1111G>C (PALLD) | NP_001354496.1:p.Asp371His | |
| NM_001367568.1:c.1162G>C (PALLD) | NP_001354497.1:p.Asp388His | |
| NM_001367569.1:c.1111G>C (PALLD) | NP_001354498.1:p.Asp371His | |
| NM_001367570.1:c.1162G>C (PALLD) | NP_001354499.1:p.Asp388His | |
| NM_001166109.2:c.2086G>C (PALLD) | NP_001159581.1:p.Asp696His | |
| NM_001166110.2:c.1771G>C (PALLD) | NP_001159582.1:p.Asp591His | |
| NM_016081.4:c.3232G>C (PALLD) | NP_057165.3:p.Asp1078His |