Linked Data
dbSNP Id:
rs774102553
ExAC:
8:68396131 C / T
gnomAD v2:
8-68396131-C-T
gnomAD v3:
8-67483896-C-T
gnomAD v4:
8-67483896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67483896C>T , CM000670.2:g.67483896C>T | GRCh38 |
| NC_000008.10:g.68396131C>T , CM000670.1:g.68396131C>T | GRCh37 |
| NC_000008.9:g.68558685C>T | NCBI36 |
| NG_027682.1:g.267490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297770.10:c.748-38G>A (CPA6) MANE Select | ENSP00000297770.4:n.748-38G>A | |
| ENST00000638254.1:c.*344-38G>A (CPA6) | ENSP00000491129.1:n.*344-38G>A | |
| ENST00000297770.8:c.748-38G>A (CPA6) | ENSP00000297770.4:n.748-38G>A | |
| ENST00000479862.6:c.*344-38G>A (CPA6) | ENSP00000419016.2:n.*344-38G>A | |
| ENST00000518549.1:c.748-38G>A (CPA6) | ENSP00000431112.1:n.748-38G>A | |
| NM_020361.4:c.748-38G>A (CPA6) | NP_065094.3:n.748-38G>A | |
| XM_011517569.1:c.841-38G>A (CPA6) | XP_011515871.1:n.841-38G>A | |
| XM_011517570.1:c.304-38G>A (CPA6) | XP_011515872.1:n.304-38G>A | |
| NR_136224.1:n.694-7069C>T (ARFGEF1-DT) | ||
| XM_011517570.2:c.304-38G>A (CPA6) | XP_011515872.1:n.304-38G>A | |
| XM_017013646.1:c.304-38G>A (CPA6) | XP_016869135.1:n.304-38G>A | |
| XR_001745565.1:n.1556-38G>A (CPA6) | ||
| NM_020361.5:c.748-38G>A (CPA6) MANE Select | NP_065094.3:n.748-38G>A |