Linked Data
ClinVar Variation Id:
1945553
ClinVar RCV Id:
RCV002667242
dbSNP Id:
rs200505839
gnomAD v2:
5-33989380-C-A
gnomAD v4:
5-33989275-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33989275C>A , CM000667.2:g.33989275C>A | GRCh38 |
| NC_000005.9:g.33989380C>A , CM000667.1:g.33989380C>A | GRCh37 |
| NC_000005.8:g.34025137C>A | NCBI36 |
| NG_011691.2:g.401G>T | |
| NG_016211.1:g.23841G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.967G>T (AMACR) MANE Select | ENSP00000334424.6:p.Val323Leu | |
| ENST00000335606.10:c.967G>T (AMACR) | ENSP00000334424.6:p.Val323Leu | |
| ENST00000382072.6:c.*209G>T (AMACR) | ENSP00000371504.2:n.*209G>T | |
| ENST00000382079.3:c.*393G>T (C1QTNF3-AMACR) | ENSP00000371511.3:n.*393G>T | |
| ENST00000382085.7:c.967G>T (AMACR) | ENSP00000371517.3:p.Val323Leu | |
| ENST00000502637.5:c.922G>T (AMACR) | ENSP00000424351.1:p.Val308Leu | |
| ENST00000506639.5:c.*289G>T (AMACR) | ENSP00000427227.1:n.*289G>T | |
| ENST00000514195.1:n.861G>T (AMACR) | ||
| NM_001167595.1:c.967G>T (AMACR) | NP_001161067.1:p.Val323Leu | |
| NM_014324.5:c.967G>T (AMACR) | NP_055139.4:p.Val323Leu | |
| NM_203382.2:c.*209G>T (AMACR) | NP_976316.1:n.*209G>T | |
| NR_037951.1:n.1323G>T (C1QTNF3-AMACR) | ||
| NM_014324.6:c.967G>T (AMACR) MANE Select | NP_055139.4:p.Val323Leu | |
| NM_001167595.2:c.967G>T (AMACR) | NP_001161067.1:p.Val323Leu | |
| NM_203382.3:c.*209G>T (AMACR) | NP_976316.1:n.*209G>T |