Linked Data
ClinVar Variation Id:
5523
dbSNP Id:
rs121917814
ExAC:
5:34007971 A / G
gnomAD v2:
5-34007971-A-G
gnomAD v3:
5-34007866-A-G
gnomAD v4:
5-34007866-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34007866A>G , CM000667.2:g.34007866A>G | GRCh38 |
| NC_000005.9:g.34007971A>G , CM000667.1:g.34007971A>G | GRCh37 |
| NC_000005.8:g.34043728A>G | NCBI36 |
| NG_016211.1:g.5250T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335606.11:c.154T>C (AMACR) MANE Select | ENSP00000334424.6:p.Ser52Pro | |
| ENST00000335606.10:c.154T>C (AMACR) | ENSP00000334424.6:p.Ser52Pro | |
| ENST00000382068.3:c.154T>C (AMACR) | ENSP00000477108.1:p.Ser52Pro | |
| ENST00000382072.6:c.154T>C (AMACR) | ENSP00000371504.2:p.Ser52Pro | |
| ENST00000382079.3:c.690-1967T>C (C1QTNF3-AMACR) | ENSP00000371511.3:n.690-1967T>C | |
| ENST00000382085.7:c.154T>C (AMACR) | ENSP00000371517.3:p.Ser52Pro | |
| ENST00000426255.6:c.154T>C (AMACR) | ENSP00000476965.1:p.Ser52Pro | |
| ENST00000502637.5:c.154T>C (AMACR) | ENSP00000424351.1:p.Ser52Pro | |
| ENST00000506639.5:c.154T>C (AMACR) | ENSP00000427227.1:p.Ser52Pro | |
| ENST00000512079.5:c.154T>C (AMACR) | ENSP00000477411.1:p.Ser52Pro | |
| ENST00000514195.1:n.166T>C (AMACR) | ||
| NM_001167595.1:c.154T>C (AMACR) | NP_001161067.1:p.Ser52Pro | |
| NM_014324.5:c.154T>C (AMACR) | NP_055139.4:p.Ser52Pro | |
| NM_203382.2:c.154T>C (AMACR) | NP_976316.1:p.Ser52Pro | |
| NR_037951.1:n.765-1967T>C (C1QTNF3-AMACR) | ||
| NM_014324.6:c.154T>C (AMACR) MANE Select | NP_055139.4:p.Ser52Pro | |
| NM_001167595.2:c.154T>C (AMACR) | NP_001161067.1:p.Ser52Pro | |
| NM_203382.3:c.154T>C (AMACR) | NP_976316.1:p.Ser52Pro |