Linked Data
dbSNP Id:
rs2298122
gnomAD v2:
10-135141572-G-T
gnomAD v3:
10-133328068-G-T
gnomAD v4:
10-133328068-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133328068G>T , CM000672.2:g.133328068G>T | GRCh38 |
| NC_000010.10:g.135141572G>T , CM000672.1:g.135141572G>T | GRCh37 |
| NC_000010.9:g.134991562G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252939.9:c.136-53C>A (CALY) MANE Select | ENSP00000252939.4:n.136-53C>A | |
| ENST00000252939.8:c.136-53C>A (CALY) | ENSP00000252939.4:n.136-53C>A | |
| ENST00000368554.8:c.485+16227G>T (PRAP1) | ENSP00000357542.4:n.485+16227G>T | |
| ENST00000368555.3:c.136-53C>A (CALY) | ENSP00000357543.3:n.136-53C>A | |
| ENST00000368558.1:c.136-53C>A (CALY) | ENSP00000357546.1:n.136-53C>A | |
| NM_015722.3:c.136-53C>A (CALY) | NP_056537.1:n.136-53C>A | |
| XM_005252685.3:c.136-53C>A (CALY) | XP_005252742.2:n.136-53C>A | |
| XM_011539835.1:c.136-53C>A (CALY) | XP_011538137.1:n.136-53C>A | |
| XM_011539836.1:c.136-53C>A (CALY) | XP_011538138.1:n.136-53C>A | |
| XM_011539837.1:c.136-53C>A (CALY) | XP_011538139.1:n.136-53C>A | |
| XM_011539839.1:c.136-53C>A (CALY) | XP_011538141.1:n.136-53C>A | |
| NM_001321617.1:c.-271-53C>A (CALY) | NP_001308546.1:n.-271-53C>A | |
| XM_005252685.4:c.136-53C>A (CALY) | XP_005252742.2:n.136-53C>A | |
| XM_011539836.3:c.136-53C>A (CALY) | XP_011538138.1:n.136-53C>A | |
| NM_015722.4:c.136-53C>A (CALY) MANE Select | NP_056537.1:n.136-53C>A | |
| NM_001321617.2:c.-271-53C>A (CALY) | NP_001308546.1:n.-271-53C>A | |
| NM_001396060.1:c.680+16227G>T (ZNF511-PRAP1) | NP_001382989.1:n.680+16227G>T |