Linked Data
ClinVar Variation Id:
353247
ClinVar RCV Id:
RCV000282413
dbSNP Id:
rs146385238
gnomAD v3:
5-33988553-A-G
gnomAD v4:
5-33988553-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33988553A>G , CM000667.2:g.33988553A>G | GRCh38 |
| NC_000005.9:g.33988658A>G , CM000667.1:g.33988658A>G | GRCh37 |
| NC_000005.8:g.34024415A>G | NCBI36 |
| NG_011691.2:g.1123T>C | |
| NG_016211.1:g.24563T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335606.11:c.*540T>C (AMACR) MANE Select | ENSP00000334424.6:n.*540T>C | |
| ENST00000335606.10:c.*540T>C (AMACR) | ENSP00000334424.6:n.*540T>C | |
| ENST00000382072.6:c.*931T>C (AMACR) | ENSP00000371504.2:n.*931T>C | |
| ENST00000382079.3:c.*1115T>C (C1QTNF3-AMACR) | ENSP00000371511.3:n.*1115T>C | |
| ENST00000382085.7:c.1132-192T>C (AMACR) | ENSP00000371517.3:n.1132-192T>C | |
| ENST00000506639.5:c.*1011T>C (AMACR) | ENSP00000427227.1:n.*1011T>C | |
| ENST00000514195.1:n.1583T>C (AMACR) | ||
| NM_001167595.1:c.1132-192T>C (AMACR) | NP_001161067.1:n.1132-192T>C | |
| NM_014324.5:c.*540T>C (AMACR) | NP_055139.4:n.*540T>C | |
| NM_203382.2:c.*931T>C (AMACR) | NP_976316.1:n.*931T>C | |
| NR_037951.1:n.2045T>C (C1QTNF3-AMACR) | ||
| NM_014324.6:c.*540T>C (AMACR) MANE Select | NP_055139.4:n.*540T>C | |
| NM_001167595.2:c.1132-192T>C (AMACR) | NP_001161067.1:n.1132-192T>C | |
| NM_203382.3:c.*931T>C (AMACR) | NP_976316.1:n.*931T>C |