Linked Data
dbSNP Id:
rs1036429
gnomAD v2:
12-96271428-T-C
gnomAD v3:
12-95877650-T-C
gnomAD v4:
12-95877650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95877650T>C , CM000674.2:g.95877650T>C | GRCh38 |
| NC_000012.11:g.96271428T>C , CM000674.1:g.96271428T>C | GRCh37 |
| NC_000012.10:g.94795559T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344280.8:c.1278+561A>G (CCDC38) MANE Select | ENSP00000345470.3:n.1278+561A>G | |
| ENST00000344280.7:c.1278+561A>G (CCDC38) | ENSP00000345470.3:n.1278+561A>G | |
| ENST00000549876.5:c.164+561A>G (CCDC38) | ||
| ENST00000552085.1:c.130-2038T>C (SNRPF) | ENSP00000447127.1:n.130-2038T>C | |
| ENST00000553192.5:c.130-2038T>C (SNRPF) | ENSP00000447751.1:n.130-2038T>C | |
| NM_182496.2:c.1278+561A>G (CCDC38) | NP_872302.2:n.1278+561A>G | |
| XM_006719229.1:c.786+561A>G (CCDC38) | XP_006719292.1:n.786+561A>G | |
| XM_011537883.1:c.1278+561A>G (CCDC38) | XP_011536185.1:n.1278+561A>G | |
| XM_011537884.1:c.1158+561A>G (CCDC38) | XP_011536186.1:n.1158+561A>G | |
| XM_011537885.1:c.1158+561A>G (CCDC38) | XP_011536187.1:n.1158+561A>G | |
| XM_011537886.1:c.1158+561A>G (CCDC38) | XP_011536188.1:n.1158+561A>G | |
| XM_011537887.1:c.1158+561A>G (CCDC38) | XP_011536189.1:n.1158+561A>G | |
| XM_011537888.1:c.627+561A>G (CCDC38) | XP_011536190.1:n.627+561A>G | |
| XR_429080.1:n.1510+561A>G (CCDC38) | ||
| XM_006719229.2:c.786+561A>G (CCDC38) | XP_006719292.1:n.786+561A>G | |
| XM_011537883.2:c.1278+561A>G (CCDC38) | XP_011536185.1:n.1278+561A>G | |
| XM_011537884.2:c.1158+561A>G (CCDC38) | XP_011536186.1:n.1158+561A>G | |
| XM_011537886.2:c.1158+561A>G (CCDC38) | XP_011536188.1:n.1158+561A>G | |
| XM_011537887.2:c.1158+561A>G (CCDC38) | XP_011536189.1:n.1158+561A>G | |
| XM_011537888.3:c.627+561A>G (CCDC38) | XP_011536190.1:n.627+561A>G | |
| NM_182496.3:c.1278+561A>G (CCDC38) MANE Select | NP_872302.2:n.1278+561A>G |