Linked Data
ClinVar Variation Id:
2493707
ClinVar RCV Id:
RCV003206336
dbSNP Id:
rs1431283279
gnomAD v2:
5-33998781-G-A
gnomAD v3:
5-33998676-G-A
gnomAD v4:
5-33998676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33998676G>A , CM000667.2:g.33998676G>A | GRCh38 |
| NC_000005.9:g.33998781G>A , CM000667.1:g.33998781G>A | GRCh37 |
| NC_000005.8:g.34034538G>A | NCBI36 |
| NG_016211.1:g.14440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.704C>T (AMACR) MANE Select | ENSP00000334424.6:p.Ala235Val | |
| ENST00000335606.10:c.704C>T (AMACR) | ENSP00000334424.6:p.Ala235Val | |
| ENST00000382068.3:c.543C>T (AMACR) | ENSP00000477108.1:p.Ser181= | |
| ENST00000382072.6:c.543C>T (AMACR) | ENSP00000371504.2:p.Ser181= | |
| ENST00000382079.3:c.*130C>T (C1QTNF3-AMACR) | ENSP00000371511.3:n.*130C>T | |
| ENST00000382085.7:c.704C>T (AMACR) | ENSP00000371517.3:p.Ala235Val | |
| ENST00000426255.6:c.704C>T (AMACR) | ENSP00000476965.1:p.Ala235Val | |
| ENST00000502637.5:c.659C>T (AMACR) | ENSP00000424351.1:p.Ala220Val | |
| ENST00000506639.5:c.543C>T (AMACR) | ENSP00000427227.1:p.Ser181= | |
| ENST00000512079.5:c.704C>T (AMACR) | ENSP00000477411.1:p.Ala235Val | |
| ENST00000514195.1:n.555C>T (AMACR) | ||
| NM_001167595.1:c.704C>T (AMACR) | NP_001161067.1:p.Ala235Val | |
| NM_014324.5:c.704C>T (AMACR) | NP_055139.4:p.Ala235Val | |
| NM_203382.2:c.543C>T (AMACR) | NP_976316.1:p.Ser181= | |
| NR_037951.1:n.1060C>T (C1QTNF3-AMACR) | ||
| NM_014324.6:c.704C>T (AMACR) MANE Select | NP_055139.4:p.Ala235Val | |
| NM_001167595.2:c.704C>T (AMACR) | NP_001161067.1:p.Ala235Val | |
| NM_203382.3:c.543C>T (AMACR) | NP_976316.1:p.Ser181= |