Linked Data
dbSNP Id:
rs10854398
gnomAD v2:
21-41021752-T-C
gnomAD v3:
21-39649825-T-C
gnomAD v4:
21-39649825-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39649825T>C , CM000683.2:g.39649825T>C | GRCh38 |
| NC_000021.8:g.41021752T>C , CM000683.1:g.41021752T>C | GRCh37 |
| NC_000021.7:g.39943622T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343118.6:c.-161+7349T>C (B3GALT5) | ENSP00000343318.4:n.-161+7349T>C | |
| ENST00000398714.4:c.-160-9928T>C (B3GALT5) | ENSP00000381699.4:n.-160-9928T>C | |
| ENST00000615480.5:c.-160-9928T>C (B3GALT5) | ENSP00000480285.1:n.-160-9928T>C | |
| ENST00000682542.1:c.-161+3203T>C (B3GALT5) | ENSP00000507453.1:n.-161+3203T>C | |
| ENST00000682818.1:n.333+3203T>C (B3GALT5) | ||
| ENST00000683344.1:c.-161+3203T>C (B3GALT5) | ENSP00000508165.1:n.-161+3203T>C | |
| ENST00000684187.2:c.-161+3203T>C (B3GALT5) MANE Select | ENSP00000506797.1:n.-161+3203T>C | |
| ENST00000684495.1:c.-161+3203T>C (B3GALT5) | ENSP00000507285.1:n.-161+3203T>C | |
| ENST00000380620.8:c.-161+3203T>C (B3GALT5) | ENSP00000369994.3:n.-161+3203T>C | |
| ENST00000615480.4:c.-160-9928T>C (B3GALT5) | ENSP00000480285.1:n.-160-9928T>C | |
| NM_001278650.1:c.-160-9928T>C (B3GALT5) | NP_001265579.1:n.-160-9928T>C | |
| XR_937730.1:n.368-2749T>C | ||
| XR_937731.1:n.369-1088T>C | ||
| XR_937732.1:n.369-2752T>C | ||
| NM_001356336.1:c.-161+3203T>C (B3GALT5) | NP_001343265.1:n.-161+3203T>C | |
| NM_001356338.1:c.-161+3203T>C (B3GALT5) | NP_001343267.1:n.-161+3203T>C | |
| NM_001356339.1:c.-161+7349T>C (B3GALT5) | NP_001343268.1:n.-161+7349T>C | |
| XM_011529472.2:c.-1107+17315T>C (IGSF5) | XP_011527774.1:n.-1107+17315T>C | |
| NM_001356336.2:c.-161+3203T>C (B3GALT5) MANE Select | NP_001343265.1:n.-161+3203T>C | |
| NM_001356338.2:c.-161+3203T>C (B3GALT5) | NP_001343267.1:n.-161+3203T>C | |
| NM_001356339.2:c.-161+7349T>C (B3GALT5) | NP_001343268.1:n.-161+7349T>C | |
| NM_001278650.2:c.-160-9928T>C (B3GALT5) | NP_001265579.1:n.-160-9928T>C |