Linked Data
ClinVar Variation Id:
353250
dbSNP Id:
rs6863560
gnomAD v2:
5-33988971-A-C
gnomAD v3:
5-33988866-A-C
gnomAD v4:
5-33988866-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33988866A>C , CM000667.2:g.33988866A>C | GRCh38 |
| NC_000005.9:g.33988971A>C , CM000667.1:g.33988971A>C | GRCh37 |
| NC_000005.8:g.34024728A>C | NCBI36 |
| NG_011691.2:g.810T>G | |
| NG_016211.1:g.24250T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.*227T>G (AMACR) MANE Select | ENSP00000334424.6:n.*227T>G | |
| ENST00000335606.10:c.*227T>G (AMACR) | ENSP00000334424.6:n.*227T>G | |
| ENST00000382072.6:c.*618T>G (AMACR) | ENSP00000371504.2:n.*618T>G | |
| ENST00000382079.3:c.*802T>G (C1QTNF3-AMACR) | ENSP00000371511.3:n.*802T>G | |
| ENST00000382085.7:c.1131+245T>G (AMACR) | ENSP00000371517.3:n.1131+245T>G | |
| ENST00000502637.5:c.*227T>G (AMACR) | ENSP00000424351.1:n.*227T>G | |
| ENST00000506639.5:c.*698T>G (AMACR) | ENSP00000427227.1:n.*698T>G | |
| ENST00000514195.1:n.1270T>G (AMACR) | ||
| NM_001167595.1:c.1131+245T>G (AMACR) | NP_001161067.1:n.1131+245T>G | |
| NM_014324.5:c.*227T>G (AMACR) | NP_055139.4:n.*227T>G | |
| NM_203382.2:c.*618T>G (AMACR) | NP_976316.1:n.*618T>G | |
| NR_037951.1:n.1732T>G (C1QTNF3-AMACR) | ||
| NM_014324.6:c.*227T>G (AMACR) MANE Select | NP_055139.4:n.*227T>G | |
| NM_001167595.2:c.1131+245T>G (AMACR) | NP_001161067.1:n.1131+245T>G | |
| NM_203382.3:c.*618T>G (AMACR) | NP_976316.1:n.*618T>G |