Linked Data
ClinVar Variation Id:
128216
dbSNP Id:
rs587780263
gnomAD v2:
4-84383744-A-T
gnomAD v4:
4-83462591-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83462591A>T , CM000666.2:g.83462591A>T | GRCh38 |
| NC_000004.11:g.84383744A>T , CM000666.1:g.84383744A>T | GRCh37 |
| NC_000004.10:g.84602768A>T | NCBI36 |
| NG_051599.1:g.27588T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321945.12:c.1108T>A (ABRAXAS1) MANE Select | ENSP00000369857.3:p.Ser370Thr | |
| ENST00000321945.11:c.1108T>A (ABRAXAS1) | ENSP00000369857.3:p.Ser370Thr | |
| ENST00000475656.6:c.*816T>A (ABRAXAS1) | ENSP00000426080.1:n.*816T>A | |
| ENST00000504777.1:n.1382T>A (ABRAXAS1) | ||
| ENST00000506553.5:c.961T>A (ABRAXAS1) | ENSP00000426763.1:p.Ser321Thr | |
| ENST00000509571.1:n.41+1358A>T (MRPS18C) | ||
| ENST00000509970.5:c.376+1358A>T (MRPS18C) | ||
| NM_139076.2:c.1108T>A (ABRAXAS1) | NP_620775.2:p.Ser370Thr | |
| XM_005263280.3:c.961T>A (ABRAXAS1) | XP_005263337.1:p.Ser321Thr | |
| XM_005263281.3:c.847T>A (ABRAXAS1) | XP_005263338.1:p.Ser283Thr | |
| XM_011532318.1:c.643T>A (ABRAXAS1) | XP_011530620.1:p.Ser215Thr | |
| NM_001345962.1:c.781T>A (ABRAXAS1) | NP_001332891.1:p.Ser261Thr | |
| XM_005263280.5:c.961T>A (ABRAXAS1) | XP_005263337.1:p.Ser321Thr | |
| NM_139076.3:c.1108T>A (ABRAXAS1) MANE Select | NP_620775.2:p.Ser370Thr | |
| NM_001345962.2:c.781T>A (ABRAXAS1) | NP_001332891.1:p.Ser261Thr |