Linked Data
ClinVar Variation Id:
2144227
ClinVar RCV Id:
RCV003068287
dbSNP Id:
rs764069625
ExAC:
2:61244920 C / A
gnomAD v2:
2-61244920-C-A
gnomAD v3:
2-61017785-C-A
gnomAD v4:
2-61017785-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61017785C>A , CM000664.2:g.61017785C>A | GRCh38 |
| NC_000002.11:g.61244920C>A , CM000664.1:g.61244920C>A | GRCh37 |
| NC_000002.10:g.61098424C>A | NCBI36 |
| NG_008665.1:g.5109C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.26C>A (PEX13) MANE Select | ENSP00000295030.4:p.Pro9His | |
| ENST00000316752.11:c.-16+223G>T (PUS10) MANE Select | ENSP00000326003.6:n.-16+223G>T | |
| ENST00000295030.5:c.26C>A (PEX13) | ENSP00000295030.4:p.Pro9His | |
| ENST00000316752.10:c.-16+223G>T (PUS10) | ENSP00000326003.6:n.-16+223G>T | |
| ENST00000401576.1:c.26C>A (PEX13) | ENSP00000384738.1:p.Pro9His | |
| ENST00000414712.2:c.26C>A (PEX13) | ENSP00000405413.2:p.Pro9His | |
| ENST00000444100.2:c.26C>A (PEX13) | ENSP00000405184.2:p.Pro9His | |
| ENST00000472678.1:n.66C>A (PEX13) | ||
| ENST00000602599.1:n.252+223G>T (PUS10) | ||
| NM_002618.3:c.26C>A (PEX13) | NP_002609.1:p.Pro9His | |
| NM_144709.2:c.-16+223G>T (PUS10) | NP_653310.2:n.-16+223G>T | |
| XM_011532574.1:c.-16+354G>T (PUS10) | XP_011530876.1:n.-16+354G>T | |
| XM_011532904.1:c.-115C>A (PEX13) | XP_011531206.1:n.-115C>A | |
| NM_001322127.1:c.-623+223G>T (PUS10) | NP_001309056.1:n.-623+223G>T | |
| NM_144709.3:c.-16+223G>T (PUS10) | NP_653310.2:n.-16+223G>T | |
| XM_011532568.3:c.-63+223G>T (PUS10) | XP_011530870.1:n.-63+223G>T | |
| XM_011532574.3:c.-16+354G>T (PUS10) | XP_011530876.1:n.-16+354G>T | |
| XM_017003428.2:c.-16+223G>T (PUS10) | XP_016858917.1:n.-16+223G>T | |
| XM_024452720.1:c.-140+223G>T (PUS10) | XP_024308488.1:n.-140+223G>T | |
| NM_002618.4:c.26C>A (PEX13) MANE Select | NP_002609.1:p.Pro9His | |
| NM_144709.4:c.-16+223G>T (PUS10) MANE Select | NP_653310.2:n.-16+223G>T |