Linked Data
ClinVar Variation Id:
904700
ClinVar RCV Id:
RCV001152759
dbSNP Id:
rs1016774406
gnomAD v3:
5-33987231-G-A
gnomAD v4:
5-33987231-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33987231G>A , CM000667.2:g.33987231G>A | GRCh38 |
| NC_000005.9:g.33987336G>A , CM000667.1:g.33987336G>A | GRCh37 |
| NC_000005.8:g.34023093G>A | NCBI36 |
| NG_011691.2:g.2445C>T | |
| NG_016211.1:g.25885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.*1862C>T (AMACR) MANE Select | ENSP00000334424.6:n.*1862C>T | |
| ENST00000335606.10:c.*1862C>T (AMACR) | ENSP00000334424.6:n.*1862C>T | |
| ENST00000382072.6:c.*2253C>T (AMACR) | ENSP00000371504.2:n.*2253C>T | |
| ENST00000382079.3:c.*2437C>T (C1QTNF3-AMACR) | ENSP00000371511.3:n.*2437C>T | |
| NM_001167595.1:c.*1077C>T (AMACR) | NP_001161067.1:n.*1077C>T | |
| NM_014324.5:c.*1862C>T (AMACR) | NP_055139.4:n.*1862C>T | |
| NM_203382.2:c.*2253C>T (AMACR) | NP_976316.1:n.*2253C>T | |
| NR_037951.1:n.3367C>T (C1QTNF3-AMACR) | ||
| NM_014324.6:c.*1862C>T (AMACR) MANE Select | NP_055139.4:n.*1862C>T | |
| NM_001167595.2:c.*1077C>T (AMACR) | NP_001161067.1:n.*1077C>T | |
| NM_203382.3:c.*2253C>T (AMACR) | NP_976316.1:n.*2253C>T |