Revel Score:
ENST00000335606 (MANE Select)
0.049
ENST00000382085
0.049
ENST00000502637
0.049
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33989413C>G , CM000667.2:g.33989413C>G | GRCh38 |
| NC_000005.9:g.33989518C>G , CM000667.1:g.33989518C>G | GRCh37 |
| NC_000005.8:g.34025275C>G | NCBI36 |
| NG_011691.2:g.263G>C | |
| NG_016211.1:g.23703G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.829G>C (AMACR) MANE Select | ENSP00000334424.6:p.Glu277Gln | |
| ENST00000335606.10:c.829G>C (AMACR) | ENSP00000334424.6:p.Glu277Gln | |
| ENST00000382072.6:c.*71G>C (AMACR) | ENSP00000371504.2:n.*71G>C | |
| ENST00000382079.3:c.*255G>C (C1QTNF3-AMACR) | ENSP00000371511.3:n.*255G>C | |
| ENST00000382085.7:c.829G>C (AMACR) | ENSP00000371517.3:p.Glu277Gln | |
| ENST00000502637.5:c.784G>C (AMACR) | ENSP00000424351.1:p.Glu262Gln | |
| ENST00000506639.5:c.*151G>C (AMACR) | ENSP00000427227.1:n.*151G>C | |
| ENST00000514195.1:n.723G>C (AMACR) | ||
| NM_001167595.1:c.829G>C (AMACR) | NP_001161067.1:p.Glu277Gln | |
| NM_014324.5:c.829G>C (AMACR) | NP_055139.4:p.Glu277Gln | |
| NM_203382.2:c.*71G>C (AMACR) | NP_976316.1:n.*71G>C | |
| NR_037951.1:n.1185G>C (C1QTNF3-AMACR) | ||
| NM_014324.6:c.829G>C (AMACR) MANE Select | NP_055139.4:p.Glu277Gln | |
| NM_001167595.2:c.829G>C (AMACR) | NP_001161067.1:p.Glu277Gln | |
| NM_203382.3:c.*71G>C (AMACR) | NP_976316.1:n.*71G>C |