gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4557296C>G , CM000671.2:g.4557296C>G | GRCh38 |
| NC_000009.11:g.4557296C>G , CM000671.1:g.4557296C>G | GRCh37 |
| NC_000009.10:g.4547296C>G | NCBI36 |
| NG_017044.1:g.71870C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.233-4153C>G (SLC1A1) MANE Select | ENSP00000262352.3:n.233-4153C>G | |
| ENST00000262352.7:c.233-4153C>G (SLC1A1) | ENSP00000262352.3:n.233-4153C>G | |
| ENST00000485616.5:c.*782-2908G>C (SPATA6L) | ENSP00000420003.1:n.*782-2908G>C | |
| NM_004170.5:c.233-4153C>G (SLC1A1) | NP_004161.4:n.233-4153C>G | |
| XM_011518007.1:c.302-4153C>G (SLC1A1) | XP_011516309.1:n.302-4153C>G | |
| XM_011518008.1:c.242-4153C>G (SLC1A1) | XP_011516310.1:n.242-4153C>G | |
| XM_011518009.1:c.173-4153C>G (SLC1A1) | XP_011516311.1:n.173-4153C>G | |
| XM_011518010.1:c.92-4153C>G (SLC1A1) | XP_011516312.1:n.92-4153C>G | |
| XM_011518008.3:c.242-4153C>G (SLC1A1) | XP_011516310.1:n.242-4153C>G | |
| XM_011518009.3:c.173-4153C>G (SLC1A1) | XP_011516311.1:n.173-4153C>G | |
| XM_017014882.2:c.*2-16106G>C (SPATA6L) | XP_016870371.1:n.*2-16106G>C | |
| XM_017015042.1:c.302-4153C>G (SLC1A1) | XP_016870531.1:n.302-4153C>G | |
| XM_017015043.1:c.233-4153C>G (SLC1A1) | XP_016870532.1:n.233-4153C>G | |
| XR_001746335.2:n.1479-16106G>C (SPATA6L) | ||
| NM_004170.6:c.233-4153C>G (SLC1A1) MANE Select | NP_004161.4:n.233-4153C>G |