Linked Data
dbSNP Id:
rs1569061
gnomAD v2:
7-73114481-C-T
gnomAD v3:
7-73700151-C-T
gnomAD v4:
7-73700151-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73700151C>T , CM000669.2:g.73700151C>T | GRCh38 |
| NC_000007.13:g.73114481C>T , CM000669.1:g.73114481C>T | GRCh37 |
| NC_000007.12:g.72752417C>T | NCBI36 |
| NG_013360.1:g.24537G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222812.8:c.*256G>A (STX1A) MANE Select | ENSP00000222812.3:n.*256G>A | |
| ENST00000222812.7:c.*256G>A (STX1A) | ENSP00000222812.3:n.*256G>A | |
| ENST00000395156.7:c.*321G>A (STX1A) | ENSP00000378585.3:n.*321G>A | |
| ENST00000436944.5:c.*294+2457C>T (BUD23) | ENSP00000391410.2:n.*294+2457C>T | |
| ENST00000484736.5:n.536G>A (STX1A) | ||
| NM_001165903.1:c.*321G>A (STX1A) | NP_001159375.1:n.*321G>A | |
| NM_004603.3:c.*256G>A (STX1A) | NP_004594.1:n.*256G>A | |
| XM_011516541.1:c.*256G>A (STX1A) | XP_011514843.1:n.*256G>A | |
| XR_242263.1:n.1285G>A (STX1A) | ||
| XR_927527.1:n.1400G>A (STX1A) | ||
| XR_927528.1:n.1338G>A (STX1A) | ||
| XR_242263.2:n.1256G>A (STX1A) | ||
| XR_927527.2:n.1371G>A (STX1A) | ||
| NM_004603.4:c.*256G>A (STX1A) MANE Select | NP_004594.1:n.*256G>A | |
| NM_001165903.2:c.*321G>A (STX1A) | NP_001159375.1:n.*321G>A |