Linked Data
ClinVar Variation Id:
1509298
ClinVar RCV Id:
RCV002040637
dbSNP Id:
rs754597804
ExAC:
16:90106822 G / A
gnomAD v2:
16-90106822-G-A
gnomAD v3:
16-90040414-G-A
gnomAD v4:
16-90040414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.90040414G>A , CM000678.2:g.90040414G>A | GRCh38 |
| NC_000016.9:g.90106822G>A , CM000678.1:g.90106822G>A | GRCh37 |
| NC_000016.8:g.88634323G>A | NCBI36 |
| NG_046598.1:g.25786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268699.9:c.1126G>A (GAS8) MANE Select | ENSP00000268699.4:p.Ala376Thr | |
| ENST00000536122.7:c.1051G>A (GAS8) | ENSP00000440977.1:p.Ala351Thr | |
| ENST00000268699.8:c.1126G>A (GAS8) | ENSP00000268699.4:p.Ala376Thr | |
| ENST00000409873.5:n.696C>T (URAHP) | ||
| ENST00000536122.5:c.1051G>A (GAS8) | ENSP00000440977.1:p.Ala351Thr | |
| ENST00000540721.5:n.1097G>A (GAS8) | ||
| ENST00000564789.5:n.372G>A (GAS8) | ||
| ENST00000566266.5:c.*1086G>A (GAS8) | ENSP00000454343.1:n.*1086G>A | |
| ENST00000569399.1:n.761G>A (GAS8) | ||
| ENST00000569558.5:n.1929G>A (GAS8) | ||
| ENST00000620723.4:c.877G>A (GAS8) | ENSP00000482877.1:p.Ala293Thr | |
| NM_001286205.1:c.877G>A (GAS8) | NP_001273134.1:p.Ala293Thr | |
| NM_001286208.1:c.550G>A (GAS8) | NP_001273137.1:p.Ala184Thr | |
| NM_001286209.1:c.1051G>A (GAS8) | NP_001273138.1:p.Ala351Thr | |
| NM_001481.2:c.1126G>A (GAS8) | NP_001472.1:p.Ala376Thr | |
| NR_027335.2:n.696C>T (URAHP) | ||
| XM_005256304.3:c.1051G>A (GAS8) | XP_005256361.1:p.Ala351Thr | |
| XM_005256309.3:c.550G>A (GAS8) | XP_005256366.1:p.Ala184Thr | |
| XM_006721175.2:c.877G>A (GAS8) | XP_006721238.1:p.Ala293Thr | |
| XM_011522990.1:c.877G>A (GAS8) | XP_011521292.1:p.Ala293Thr | |
| XM_011522991.1:c.877G>A (GAS8) | XP_011521293.1:p.Ala293Thr | |
| XM_011522992.1:c.877G>A (GAS8) | XP_011521294.1:p.Ala293Thr | |
| XM_005256309.4:c.550G>A (GAS8) | XP_005256366.1:p.Ala184Thr | |
| XM_006721175.3:c.877G>A (GAS8) | XP_006721238.1:p.Ala293Thr | |
| XM_011522990.2:c.877G>A (GAS8) | XP_011521292.1:p.Ala293Thr | |
| XM_011522992.2:c.877G>A (GAS8) | XP_011521294.1:p.Ala293Thr | |
| XM_017023122.1:c.877G>A (GAS8) | XP_016878611.1:p.Ala293Thr | |
| XM_017023123.1:c.877G>A (GAS8) | XP_016878612.1:p.Ala293Thr | |
| XM_017023124.1:c.550G>A (GAS8) | XP_016878613.1:p.Ala184Thr | |
| XM_017023125.1:c.550G>A (GAS8) | XP_016878614.1:p.Ala184Thr | |
| XM_024450228.1:c.1051G>A (GAS8) | XP_024305996.1:p.Ala351Thr | |
| NM_001481.3:c.1126G>A (GAS8) MANE Select | NP_001472.1:p.Ala376Thr | |
| NM_001286205.2:c.877G>A (GAS8) | NP_001273134.1:p.Ala293Thr | |
| NM_001286208.2:c.550G>A (GAS8) | NP_001273137.1:p.Ala184Thr | |
| NM_001286209.2:c.1051G>A (GAS8) | NP_001273138.1:p.Ala351Thr |