Linked Data
ClinVar Variation Id:
1967729
dbSNP Id:
rs761768331
ExAC:
5:33989363 T / C
gnomAD v2:
5-33989363-T-C
gnomAD v4:
5-33989258-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33989258T>C , CM000667.2:g.33989258T>C | GRCh38 |
| NC_000005.9:g.33989363T>C , CM000667.1:g.33989363T>C | GRCh37 |
| NC_000005.8:g.34025120T>C | NCBI36 |
| NG_011691.2:g.418A>G | |
| NG_016211.1:g.23858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.984A>G (AMACR) MANE Select | ENSP00000334424.6:p.Ala328= | |
| ENST00000335606.10:c.984A>G (AMACR) | ENSP00000334424.6:p.Ala328= | |
| ENST00000382072.6:c.*226A>G (AMACR) | ENSP00000371504.2:n.*226A>G | |
| ENST00000382079.3:c.*410A>G (C1QTNF3-AMACR) | ENSP00000371511.3:n.*410A>G | |
| ENST00000382085.7:c.984A>G (AMACR) | ENSP00000371517.3:p.Ala328= | |
| ENST00000502637.5:c.939A>G (AMACR) | ENSP00000424351.1:p.Ala313= | |
| ENST00000506639.5:c.*306A>G (AMACR) | ENSP00000427227.1:n.*306A>G | |
| ENST00000514195.1:n.878A>G (AMACR) | ||
| NM_001167595.1:c.984A>G (AMACR) | NP_001161067.1:p.Ala328= | |
| NM_014324.5:c.984A>G (AMACR) | NP_055139.4:p.Ala328= | |
| NM_203382.2:c.*226A>G (AMACR) | NP_976316.1:n.*226A>G | |
| NR_037951.1:n.1340A>G (C1QTNF3-AMACR) | ||
| NM_014324.6:c.984A>G (AMACR) MANE Select | NP_055139.4:p.Ala328= | |
| NM_001167595.2:c.984A>G (AMACR) | NP_001161067.1:p.Ala328= | |
| NM_203382.3:c.*226A>G (AMACR) | NP_976316.1:n.*226A>G |