Linked Data
ClinVar Variation Id:
296252
ClinVar RCV Id:
RCV000386642
dbSNP Id:
rs556816263
gnomAD v2:
1-2336351-C-T
gnomAD v3:
1-2404912-C-T
gnomAD v4:
1-2404912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2404912C>T , CM000663.2:g.2404912C>T | GRCh38 |
| NC_000001.10:g.2336351C>T , CM000663.1:g.2336351C>T | GRCh37 |
| NC_000001.9:g.2326211C>T | NCBI36 |
| NG_008342.1:g.12660G>A | |
| NG_016128.1:g.18138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.*854G>A (PEX10) | ENSP00000288774.3:n.*854G>A | |
| ENST00000447513.7:c.*854G>A (PEX10) MANE Select | ENSP00000407922.2:n.*854G>A | |
| ENST00000605895.6:c.*1788C>T (RER1) MANE Select | ENSP00000475168.1:n.*1788C>T | |
| ENST00000650293.1:c.1671-21G>A (PEX10) | ||
| ENST00000288774.7:c.*854G>A (PEX10) | ENSP00000288774.3:n.*854G>A | |
| ENST00000378513.7:c.*1925C>T (RER1) | ENSP00000367774.5:n.*1925C>T | |
| ENST00000447513.6:c.*854G>A (PEX10) | ENSP00000407922.2:n.*854G>A | |
| ENST00000507596.5:c.*854G>A (PEX10) | ENSP00000424291.1:n.*854G>A | |
| ENST00000605895.5:c.*1788C>T (RER1) | ENSP00000475168.1:n.*1788C>T | |
| NM_002617.3:c.*854G>A (PEX10) | NP_002608.1:n.*854G>A | |
| NM_007033.4:c.*1788C>T (RER1) | NP_008964.3:n.*1788C>T | |
| NM_153818.1:c.*854G>A (PEX10) | NP_722540.1:n.*854G>A | |
| XM_005244713.3:c.*1788C>T (RER1) | XP_005244770.2:n.*1788C>T | |
| XM_006710306.2:c.*1788C>T (RER1) | XP_006710369.1:n.*1788C>T | |
| XM_011540542.1:c.*1788C>T (RER1) | XP_011538844.1:n.*1788C>T | |
| XM_011540543.1:c.*1788C>T (RER1) | XP_011538845.1:n.*1788C>T | |
| XM_011541573.1:c.*854G>A (PEX10) | XP_011539875.1:n.*854G>A | |
| XM_011541574.1:c.*854G>A (PEX10) | XP_011539876.1:n.*854G>A | |
| XM_011541575.1:c.*854G>A (PEX10) | XP_011539877.1:n.*854G>A | |
| XR_946666.1:n.1951G>A (PEX10) | ||
| XM_005244713.4:c.*1788C>T (RER1) | XP_005244770.2:n.*1788C>T | |
| XM_011540543.2:c.*1788C>T (RER1) | XP_011538845.1:n.*1788C>T | |
| XM_017000131.1:c.*1788C>T (RER1) | XP_016855620.1:n.*1788C>T | |
| XM_017000132.1:c.*1788C>T (RER1) | XP_016855621.1:n.*1788C>T | |
| XM_017000133.1:c.*1788C>T (RER1) | XP_016855622.1:n.*1788C>T | |
| XM_017000134.1:c.*1788C>T (RER1) | XP_016855623.1:n.*1788C>T | |
| XM_017000135.1:c.*1788C>T (RER1) | XP_016855624.1:n.*1788C>T | |
| XR_946666.2:n.1900G>A (PEX10) | ||
| NM_007033.5:c.*1788C>T (RER1) MANE Select | NP_008964.3:n.*1788C>T | |
| NM_001374425.1:c.*854G>A (PEX10) | NP_001361354.1:n.*854G>A | |
| NM_001374426.1:c.*854G>A (PEX10) | NP_001361355.1:n.*854G>A | |
| NM_001374427.1:c.*854G>A (PEX10) | NP_001361356.1:n.*854G>A | |
| NM_002617.4:c.*854G>A (PEX10) MANE Select | NP_002608.1:n.*854G>A | |
| NM_153818.2:c.*854G>A (PEX10) | NP_722540.1:n.*854G>A | |
| NR_164636.1:n.1950G>A (PEX10) |