Linked Data
ClinVar Variation Id:
430588
ClinVar RCV Id:
RCV000494704
dbSNP Id:
rs376787666
gnomAD v2:
7-99796995-G-A
gnomAD v3:
7-100199372-G-A
gnomAD v4:
7-100199372-G-A
PubMed:
PMID:28393351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100199372G>A , CM000669.2:g.100199372G>A | GRCh38 |
| NC_000007.13:g.99796995G>A , CM000669.1:g.99796995G>A | GRCh37 |
| NC_000007.12:g.99634931G>A | NCBI36 |
| NG_034114.1:g.26649G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412190.6:c.*892+5G>A (STAG3) | ENSP00000395039.2:n.*892+5G>A | |
| ENST00000615138.5:c.1573+5G>A (STAG3) MANE Select | ENSP00000477973.1:n.1573+5G>A | |
| ENST00000620100.5:c.1399+5G>A (STAG3) | ENSP00000484098.1:n.1399+5G>A | |
| ENST00000317296.9:c.1573+5G>A (STAG3) | ENSP00000319318.5:n.1573+5G>A | |
| ENST00000394018.6:c.1399+5G>A (STAG3) | ENSP00000377586.2:n.1399+5G>A | |
| ENST00000426455.5:c.1573+5G>A (STAG3) | ENSP00000400359.1:n.1573+5G>A | |
| ENST00000440830.5:n.648+5G>A (STAG3) | ||
| ENST00000477469.1:n.489G>A (STAG3) | ||
| ENST00000491498.5:n.560+5G>A (STAG3) | ||
| ENST00000496157.5:n.1990+5G>A (STAG3) | ||
| ENST00000615138.4:c.1573+5G>A (STAG3) | ENSP00000477973.1:n.1573+5G>A | |
| ENST00000620100.4:c.1399+5G>A (STAG3) | ENSP00000484098.1:n.1399+5G>A | |
| NM_001282716.1:c.1573+5G>A (STAG3) | NP_001269645.1:n.1573+5G>A | |
| NM_001282717.1:c.1573+5G>A (STAG3) | NP_001269646.1:n.1573+5G>A | |
| NM_001282718.1:c.1399+5G>A (STAG3) | NP_001269647.1:n.1399+5G>A | |
| NM_012447.3:c.1573+5G>A (STAG3) | NP_036579.2:n.1573+5G>A | |
| XM_005250116.1:c.1573+5G>A (STAG3) | XP_005250173.1:n.1573+5G>A | |
| XM_011515742.1:c.1573+5G>A (STAG3) | XP_011514044.1:n.1573+5G>A | |
| XM_011515743.1:c.1573+5G>A (STAG3) | XP_011514045.1:n.1573+5G>A | |
| XM_011515744.1:c.1291+5G>A (STAG3) | XP_011514046.1:n.1291+5G>A | |
| XM_011515745.1:c.580+5G>A (STAG3) | XP_011514047.1:n.580+5G>A | |
| XM_017011683.2:c.1573+5G>A (STAG3) | XP_016867172.1:n.1573+5G>A | |
| XM_017011684.1:c.1573+5G>A (STAG3) | XP_016867173.1:n.1573+5G>A | |
| XM_017011685.1:c.1573+5G>A (STAG3) | XP_016867174.1:n.1573+5G>A | |
| XM_017011686.2:c.1573+5G>A (STAG3) | XP_016867175.1:n.1573+5G>A | |
| XM_017011687.1:c.1399+5G>A (STAG3) | XP_016867176.1:n.1399+5G>A | |
| XM_017012156.1:c.536-10983C>T (CASTOR3P) | XP_016867645.1:n.536-10983C>T | |
| NM_001282717.2:c.1573+5G>A (STAG3) MANE Select | NP_001269646.1:n.1573+5G>A | |
| NM_001282718.2:c.1399+5G>A (STAG3) | NP_001269647.1:n.1399+5G>A | |
| NM_001375438.1:c.1573+5G>A (STAG3) | NP_001362367.1:n.1573+5G>A | |
| NM_012447.4:c.1573+5G>A (STAG3) | NP_036579.2:n.1573+5G>A |