Linked Data
ClinVar Variation Id:
5524
ClinVar RCV Id:
RCV000005860
dbSNP Id:
rs121917816
ExAC:
5:34005932 A / G
gnomAD v2:
5-34005932-A-G
gnomAD v4:
5-34005827-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34005827A>G , CM000667.2:g.34005827A>G | GRCh38 |
| NC_000005.9:g.34005932A>G , CM000667.1:g.34005932A>G | GRCh37 |
| NC_000005.8:g.34041689A>G | NCBI36 |
| NG_016211.1:g.7289T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335606.11:c.320T>C (AMACR) MANE Select | ENSP00000334424.6:p.Leu107Pro | |
| ENST00000335606.10:c.320T>C (AMACR) | ENSP00000334424.6:p.Leu107Pro | |
| ENST00000382068.3:c.320T>C (AMACR) | ENSP00000477108.1:p.Leu107Pro | |
| ENST00000382072.6:c.320T>C (AMACR) | ENSP00000371504.2:p.Leu107Pro | |
| ENST00000382079.3:c.762T>C (C1QTNF3-AMACR) | ENSP00000371511.3:p.Ala254= | |
| ENST00000382085.7:c.320T>C (AMACR) | ENSP00000371517.3:p.Leu107Pro | |
| ENST00000426255.6:c.320T>C (AMACR) | ENSP00000476965.1:p.Leu107Pro | |
| ENST00000502637.5:c.320T>C (AMACR) | ENSP00000424351.1:p.Leu107Pro | |
| ENST00000506639.5:c.320T>C (AMACR) | ENSP00000427227.1:p.Leu107Pro | |
| ENST00000512079.5:c.320T>C (AMACR) | ENSP00000477411.1:p.Leu107Pro | |
| ENST00000514195.1:n.332T>C (AMACR) | ||
| NM_001167595.1:c.320T>C (AMACR) | NP_001161067.1:p.Leu107Pro | |
| NM_014324.5:c.320T>C (AMACR) | NP_055139.4:p.Leu107Pro | |
| NM_203382.2:c.320T>C (AMACR) | NP_976316.1:p.Leu107Pro | |
| NR_037951.1:n.837T>C (C1QTNF3-AMACR) | ||
| NM_014324.6:c.320T>C (AMACR) MANE Select | NP_055139.4:p.Leu107Pro | |
| NM_001167595.2:c.320T>C (AMACR) | NP_001161067.1:p.Leu107Pro | |
| NM_203382.3:c.320T>C (AMACR) | NP_976316.1:p.Leu107Pro |