gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103712930T>A , CM000676.2:g.103712930T>A | GRCh38 |
| NC_000014.8:g.104179267T>A , CM000676.1:g.104179267T>A | GRCh37 |
| NC_000014.7:g.103249020T>A | NCBI36 |
| NG_011516.1:g.7557A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555055.6:c.-316A>T (XRCC3) MANE Select | ENSP00000452598.1:n.-316A>T | |
| ENST00000348520.10:c.*11731T>A (KLC1) | ENSP00000341154.6:n.*11731T>A | |
| ENST00000352127.11:c.-260-1363A>T (XRCC3) | ENSP00000343392.7:n.-260-1363A>T | |
| ENST00000553332.5:c.-354-1269A>T (XRCC3) | ENSP00000450780.1:n.-354-1269A>T | |
| ENST00000553361.5:c.-260-1363A>T (XRCC3) | ENSP00000451118.1:n.-260-1363A>T | |
| ENST00000554170.1:c.-316A>T (XRCC3) | ENSP00000450738.1:n.-316A>T | |
| ENST00000554913.5:c.-251A>T (XRCC3) | ENSP00000451362.1:n.-251A>T | |
| ENST00000554974.5:c.-55+2494A>T (XRCC3) | ENSP00000451361.1:n.-55+2494A>T | |
| ENST00000555055.5:c.-316A>T (XRCC3) | ENSP00000452598.1:n.-316A>T | |
| ENST00000555231.5:n.37-1363A>T (XRCC3) | ||
| ENST00000555964.5:c.-195-1363A>T (XRCC3) | ENSP00000451173.1:n.-195-1363A>T | |
| ENST00000556682.5:c.-289-1269A>T (XRCC3) | ENSP00000452389.1:n.-289-1269A>T | |
| ENST00000556980.5:c.-316A>T (XRCC3) | ENSP00000451252.1:n.-316A>T | |
| ENST00000557439.5:c.-316A>T (XRCC3) | ENSP00000473569.1:n.-316A>T | |
| NM_001100118.1:c.-260-1363A>T (XRCC3) | NP_001093588.1:n.-260-1363A>T | |
| NM_001100119.1:c.-316A>T (XRCC3) | NP_001093589.1:n.-316A>T | |
| NM_005432.3:c.-316A>T (XRCC3) | NP_005423.1:n.-316A>T | |
| XM_005268046.1:c.-354-1269A>T (XRCC3) | XP_005268103.1:n.-354-1269A>T | |
| XM_011537138.1:c.-316A>T (XRCC3) | XP_011535440.1:n.-316A>T | |
| XM_005268046.2:c.-354-1269A>T (XRCC3) | XP_005268103.1:n.-354-1269A>T | |
| XM_011537138.2:c.-316A>T (XRCC3) | XP_011535440.1:n.-316A>T | |
| NM_005432.4:c.-316A>T (XRCC3) MANE Select | NP_005423.1:n.-316A>T | |
| NM_001100118.2:c.-260-1363A>T (XRCC3) | NP_001093588.1:n.-260-1363A>T | |
| NM_001100119.2:c.-316A>T (XRCC3) | NP_001093589.1:n.-316A>T | |
| NM_001371229.1:c.-316A>T (XRCC3) | NP_001358158.1:n.-316A>T | |
| NM_001371231.1:c.-410A>T (XRCC3) | NP_001358160.1:n.-410A>T | |
| NM_001371232.1:c.-251A>T (XRCC3) | NP_001358161.1:n.-251A>T |