Linked Data
ClinVar Variation Id:
348047
dbSNP Id:
rs112116419
ExAC:
4:169846380 G / A
gnomAD v2:
4-169846380-G-A
gnomAD v3:
4-168925229-G-A
gnomAD v4:
4-168925229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168925229G>A , CM000666.2:g.168925229G>A | GRCh38 |
| NC_000004.11:g.169846380G>A , CM000666.1:g.169846380G>A | GRCh37 |
| NC_000004.10:g.170082955G>A | NCBI36 |
| NG_013376.1:g.433164G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704822.1:c.1237+151G>A (PALLD) | ENSP00000516055.1:n.1237+151G>A | |
| ENST00000505667.6:c.3359-4G>A (PALLD) MANE Select | ENSP00000425556.1:n.3359-4G>A | |
| ENST00000507735.6:c.1846+151G>A (PALLD) | ENSP00000424016.1:n.1846+151G>A | |
| ENST00000261509.10:c.3308-4G>A (PALLD) | ENSP00000261509.6:n.3308-4G>A | |
| ENST00000503290.1:c.468-4G>A (PALLD) | ||
| ENST00000505667.5:c.3359-4G>A (PALLD) | ENSP00000425556.1:n.3359-4G>A | |
| ENST00000507699.1:n.1624+151G>A (PALLD) | ||
| ENST00000507735.5:c.1846+151G>A (PALLD) | ENSP00000424016.1:n.1846+151G>A | |
| ENST00000509108.1:n.170-30464C>T (CBR4) | ||
| ENST00000510042.5:c.*259-30464C>T (CBR4) | ENSP00000424717.1:n.*259-30464C>T | |
| ENST00000512127.5:c.2161+151G>A (PALLD) | ENSP00000426947.1:n.2161+151G>A | |
| NM_001166108.1:c.3359-4G>A (PALLD) | NP_001159580.1:n.3359-4G>A | |
| NM_001166109.1:c.2161+151G>A (PALLD) | NP_001159581.1:n.2161+151G>A | |
| NM_001166110.1:c.1846+151G>A (PALLD) | NP_001159582.1:n.1846+151G>A | |
| NM_016081.3:c.3308-4G>A (PALLD) | NP_057165.3:n.3308-4G>A | |
| XM_005262861.3:c.4030+151G>A (PALLD) | XP_005262918.1:n.4030+151G>A | |
| XM_005262866.2:c.2884+151G>A (PALLD) | XP_005262923.1:n.2884+151G>A | |
| XM_005263315.1:c.536-30464C>T (CBR4) | XP_005263372.1:n.536-30464C>T | |
| XM_011531768.1:c.4234+151G>A (PALLD) | XP_011530070.1:n.4234+151G>A | |
| XM_011531769.1:c.4183+151G>A (PALLD) | XP_011530071.1:n.4183+151G>A | |
| XM_011531770.1:c.4235-4G>A (PALLD) | XP_011530072.1:n.4235-4G>A | |
| XM_011531771.1:c.3961+151G>A (PALLD) | XP_011530073.1:n.3961+151G>A | |
| XM_011531772.1:c.3862+151G>A (PALLD) | XP_011530074.1:n.3862+151G>A | |
| XM_011531773.1:c.3562+151G>A (PALLD) | XP_011530075.1:n.3562+151G>A | |
| XM_011531774.1:c.3511+151G>A (PALLD) | XP_011530076.1:n.3511+151G>A | |
| XM_011531775.1:c.2884+151G>A (PALLD) | XP_011530077.1:n.2884+151G>A | |
| XM_011531776.1:c.2884+151G>A (PALLD) | XP_011530078.1:n.2884+151G>A | |
| XR_938789.1:n.901+3308C>T (CBR4) | ||
| XM_005262861.4:c.4030+151G>A (PALLD) | XP_005262918.1:n.4030+151G>A | |
| XM_005263315.3:c.536-30464C>T (CBR4) | XP_005263372.1:n.536-30464C>T | |
| XM_011531768.2:c.4234+151G>A (PALLD) | XP_011530070.1:n.4234+151G>A | |
| XM_011531769.2:c.4183+151G>A (PALLD) | XP_011530071.1:n.4183+151G>A | |
| XM_011531770.2:c.4235-4G>A (PALLD) | XP_011530072.1:n.4235-4G>A | |
| XM_011531771.2:c.3961+151G>A (PALLD) | XP_011530073.1:n.3961+151G>A | |
| XM_011531772.2:c.3862+151G>A (PALLD) | XP_011530074.1:n.3862+151G>A | |
| XM_017007910.1:c.4184-4G>A (PALLD) | XP_016863399.1:n.4184-4G>A | |
| XM_017008782.1:c.566-30464C>T (CBR4) | XP_016864271.1:n.566-30464C>T | |
| XM_024453939.1:c.2884+151G>A (PALLD) | XP_024309707.1:n.2884+151G>A | |
| XM_024453940.1:c.1897+151G>A (PALLD) | XP_024309708.1:n.1897+151G>A | |
| XR_001741341.1:n.901+3308C>T (CBR4) | ||
| NM_001166108.2:c.3359-4G>A (PALLD) MANE Select | NP_001159580.1:n.3359-4G>A | |
| NM_001367567.1:c.1187-4G>A (PALLD) | NP_001354496.1:n.1187-4G>A | |
| NM_001367568.1:c.1237+151G>A (PALLD) | NP_001354497.1:n.1237+151G>A | |
| NM_001367569.1:c.1186+151G>A (PALLD) | NP_001354498.1:n.1186+151G>A | |
| NM_001367570.1:c.1238-4G>A (PALLD) | NP_001354499.1:n.1238-4G>A | |
| NM_001166109.2:c.2161+151G>A (PALLD) | NP_001159581.1:n.2161+151G>A | |
| NM_001166110.2:c.1846+151G>A (PALLD) | NP_001159582.1:n.1846+151G>A | |
| NM_016081.4:c.3308-4G>A (PALLD) | NP_057165.3:n.3308-4G>A |