Linked Data
ClinVar Variation Id:
4646
ClinVar RCV Id:
RCV000004909
dbSNP Id:
rs121908169
gnomAD v2:
1-110607260-A-T
gnomAD v3:
1-110064638-A-T
gnomAD v4:
1-110064638-A-T
PubMed:
PMID:19409524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110064638A>T , CM000663.2:g.110064638A>T | GRCh38 |
| NC_000001.10:g.110607260A>T , CM000663.1:g.110607260A>T | GRCh37 |
| NC_000001.9:g.110408783A>T | NCBI36 |
| NG_012039.1:g.11063T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647563.2:c.543T>A (ALX3) MANE Select | ENSP00000497310.1:p.Tyr181Ter | |
| ENST00000649954.1:c.114T>A (ALX3) | ENSP00000497035.1:p.Tyr38Ter | |
| ENST00000369792.4:c.543T>A (ALX3) | ENSP00000358807.3:p.Tyr181Ter | |
| ENST00000473429.5:n.4214-7817A>T (STRIP1) | ||
| NM_006492.2:c.543T>A (ALX3) | NP_006483.2:p.Tyr181Ter | |
| NM_006492.3:c.543T>A (ALX3) MANE Select | NP_006483.2:p.Tyr181Ter |