Linked Data
dbSNP Id:
rs2044117
gnomAD v2:
13-101708310-G-A
gnomAD v3:
13-101055958-G-A
gnomAD v4:
13-101055958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101055958G>A , CM000675.2:g.101055958G>A | GRCh38 |
| NC_000013.10:g.101708310G>A , CM000675.1:g.101708310G>A | GRCh37 |
| NC_000013.9:g.100506311G>A | NCBI36 |
| NG_053176.1:g.366249C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.5024-470C>T (NALCN) MANE Select | ENSP00000251127.6:n.5024-470C>T | |
| ENST00000648359.1:c.*644-470C>T (NALCN) | ENSP00000497465.1:n.*644-470C>T | |
| ENST00000675150.1:c.4745-470C>T (NALCN) | ENSP00000502680.1:n.4745-470C>T | |
| ENST00000675332.1:c.5111-470C>T (NALCN) | ENSP00000501955.1:n.5111-470C>T | |
| ENST00000676315.1:c.4937-470C>T (NALCN) | ENSP00000501603.1:n.4937-470C>T | |
| ENST00000251127.10:c.5024-470C>T (NALCN) | ENSP00000251127.6:n.5024-470C>T | |
| NM_052867.2:c.5024-470C>T (NALCN) | NP_443099.1:n.5024-470C>T | |
| NR_047687.1:n.770+512G>A (NALCN-AS1) | ||
| XM_011521067.1:c.5081-470C>T (NALCN) | XP_011519369.1:n.5081-470C>T | |
| XM_011521068.1:c.5024-470C>T (NALCN) | XP_011519370.1:n.5024-470C>T | |
| XM_011521069.1:c.4994-470C>T (NALCN) | XP_011519371.1:n.4994-470C>T | |
| XM_011521070.1:c.4802-470C>T (NALCN) | XP_011519372.1:n.4802-470C>T | |
| NM_001350748.1:c.5111-470C>T (NALCN) | NP_001337677.1:n.5111-470C>T | |
| NM_001350749.1:c.5024-470C>T (NALCN) | NP_001337678.1:n.5024-470C>T | |
| NM_001350750.1:c.4937-470C>T (NALCN) | NP_001337679.1:n.4937-470C>T | |
| NM_001350751.1:c.4937-470C>T (NALCN) | NP_001337680.1:n.4937-470C>T | |
| NM_052867.3:c.5024-470C>T (NALCN) | NP_443099.1:n.5024-470C>T | |
| XM_011521067.2:c.5081-470C>T (NALCN) | XP_011519369.1:n.5081-470C>T | |
| XM_011521069.2:c.4994-470C>T (NALCN) | XP_011519371.1:n.4994-470C>T | |
| XM_017020536.2:c.4577-470C>T (NALCN) | XP_016876025.1:n.4577-470C>T | |
| XM_017020537.1:c.4259-470C>T (NALCN) | XP_016876026.1:n.4259-470C>T | |
| XM_024449336.1:c.5168-470C>T (NALCN) | XP_024305104.1:n.5168-470C>T | |
| NM_052867.4:c.5024-470C>T (NALCN) MANE Select | NP_443099.1:n.5024-470C>T | |
| NM_001350748.2:c.5111-470C>T (NALCN) | NP_001337677.1:n.5111-470C>T | |
| NM_001350749.2:c.5024-470C>T (NALCN) | NP_001337678.1:n.5024-470C>T | |
| NM_001350750.2:c.4937-470C>T (NALCN) | NP_001337679.1:n.4937-470C>T | |
| NM_001350751.2:c.4937-470C>T (NALCN) | NP_001337680.1:n.4937-470C>T |