Linked Data
ClinVar Variation Id:
1949782
dbSNP Id:
rs201659164
gnomAD v2:
5-33998763-T-C
gnomAD v4:
5-33998658-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33998658T>C , CM000667.2:g.33998658T>C | GRCh38 |
| NC_000005.9:g.33998763T>C , CM000667.1:g.33998763T>C | GRCh37 |
| NC_000005.8:g.34034520T>C | NCBI36 |
| NG_016211.1:g.14458A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.722A>G (AMACR) MANE Select | ENSP00000334424.6:p.Tyr241Cys | |
| ENST00000335606.10:c.722A>G (AMACR) | ENSP00000334424.6:p.Tyr241Cys | |
| ENST00000382068.3:c.561A>G (AMACR) | ENSP00000477108.1:p.Leu187= | |
| ENST00000382072.6:c.561A>G (AMACR) | ENSP00000371504.2:p.Leu187= | |
| ENST00000382079.3:c.*148A>G (C1QTNF3-AMACR) | ENSP00000371511.3:n.*148A>G | |
| ENST00000382085.7:c.722A>G (AMACR) | ENSP00000371517.3:p.Tyr241Cys | |
| ENST00000426255.6:c.722A>G (AMACR) | ENSP00000476965.1:p.Tyr241Cys | |
| ENST00000502637.5:c.677A>G (AMACR) | ENSP00000424351.1:p.Tyr226Cys | |
| ENST00000506639.5:c.561A>G (AMACR) | ENSP00000427227.1:p.Leu187= | |
| ENST00000512079.5:c.722A>G (AMACR) | ENSP00000477411.1:p.Tyr241Cys | |
| ENST00000514195.1:n.573A>G (AMACR) | ||
| NM_001167595.1:c.722A>G (AMACR) | NP_001161067.1:p.Tyr241Cys | |
| NM_014324.5:c.722A>G (AMACR) | NP_055139.4:p.Tyr241Cys | |
| NM_203382.2:c.561A>G (AMACR) | NP_976316.1:p.Leu187= | |
| NR_037951.1:n.1078A>G (C1QTNF3-AMACR) | ||
| NM_014324.6:c.722A>G (AMACR) MANE Select | NP_055139.4:p.Tyr241Cys | |
| NM_001167595.2:c.722A>G (AMACR) | NP_001161067.1:p.Tyr241Cys | |
| NM_203382.3:c.561A>G (AMACR) | NP_976316.1:p.Leu187= |