Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51692221G>C , CM000681.2:g.51692221G>C | GRCh38 |
| NC_000019.9:g.52195474G>C , CM000681.1:g.52195474G>C | GRCh37 |
| NC_000019.8:g.56887286G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001316994.1:c.92-2257G>C (SPACA6) | NP_001303923.1:n.92-2257G>C |
| NM_001316994.2:c.92-2257G>C (SPACA6) | NP_001303923.1:n.92-2257G>C |
| NR_108100.1:n.823+413C>G (SPACA6-AS1) | |
| ENST00000646845.1:c.368-2257G>C (SPACA6) | ENSP00000496692.1:n.368-2257G>C |
| ENST00000710615.1:c.-41-2257G>C (SPACA6) | ENSP00000518379.1:n.-41-2257G>C |
| XM_017026299.2:c.-1306G>C (SPACA6) | XP_016881788.1:n.-1306G>C |
| XM_017026300.2:c.-41-2257G>C (SPACA6) | XP_016881789.1:n.-41-2257G>C |