Linked Data
ClinVar Variation Id:
774314
ClinVar RCV Id:
RCV000954264
dbSNP Id:
rs149964084
ExAC:
7:27183146 A / G
gnomAD v2:
7-27183146-A-G
gnomAD v3:
7-27143527-A-G
gnomAD v4:
7-27143527-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27143527A>G , CM000669.2:g.27143527A>G | GRCh38 |
| NC_000007.13:g.27183146A>G , CM000669.1:g.27183146A>G | GRCh37 |
| NC_000007.12:g.27149671A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612286.5:c.-493-3341T>C (HOXA3) MANE Select | ENSP00000484411.1:n.-493-3341T>C | |
| ENST00000222726.4:c.81T>C (HOXA5) MANE Select | ENSP00000222726.3:p.His27= | |
| ENST00000222726.3:c.81T>C (HOXA5) | ENSP00000222726.3:p.His27= | |
| ENST00000518451.1:n.295-3341T>C (HOXA3) | ||
| NM_019102.3:c.81T>C (HOXA5) | NP_061975.2:p.His27= | |
| NR_038832.1:n.176+2988A>G (HOXA-AS3) | ||
| XM_005249730.2:c.-493-3341T>C (HOXA3) | XP_005249787.1:n.-493-3341T>C | |
| XM_006715715.2:c.-609-3341T>C (HOXA3) | XP_006715778.1:n.-609-3341T>C | |
| XM_011515343.3:c.-3757-3341T>C (HOXA3) | XP_011513645.1:n.-3757-3341T>C | |
| NM_019102.4:c.81T>C (HOXA5) MANE Select | NP_061975.2:p.His27= | |
| NM_001384335.1:c.-609-3341T>C (HOXA3) | NP_001371264.1:n.-609-3341T>C | |
| NM_001384336.1:c.-308-3341T>C (HOXA3) | NP_001371265.1:n.-308-3341T>C | |
| NM_153631.3:c.-493-3341T>C (HOXA3) MANE Select | NP_705895.1:n.-493-3341T>C |