Linked Data
ClinVar Variation Id:
128357
dbSNP Id:
rs10941112
ExAC:
5:34004707 C / T
gnomAD v2:
5-34004707-C-T
gnomAD v3:
5-34004602-C-T
gnomAD v4:
5-34004602-C-T
PubMed:
PMID:20011102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34004602C>T , CM000667.2:g.34004602C>T | GRCh38 |
| NC_000005.9:g.34004707C>T , CM000667.1:g.34004707C>T | GRCh37 |
| NC_000005.8:g.34040464C>T | NCBI36 |
| NG_016211.1:g.8514G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335606.11:c.524G>A (AMACR) MANE Select | ENSP00000334424.6:p.Gly175Asp | |
| ENST00000335606.10:c.524G>A (AMACR) | ENSP00000334424.6:p.Gly175Asp | |
| ENST00000382068.3:c.391+1154G>A (AMACR) | ENSP00000477108.1:n.391+1154G>A | |
| ENST00000382072.6:c.391+1154G>A (AMACR) | ENSP00000371504.2:n.391+1154G>A | |
| ENST00000382079.3:c.833+1154G>A (C1QTNF3-AMACR) | ENSP00000371511.3:n.833+1154G>A | |
| ENST00000382085.7:c.524G>A (AMACR) | ENSP00000371517.3:p.Gly175Asp | |
| ENST00000426255.6:c.524G>A (AMACR) | ENSP00000476965.1:p.Gly175Asp | |
| ENST00000502637.5:c.524G>A (AMACR) | ENSP00000424351.1:p.Gly175Asp | |
| ENST00000506639.5:c.391+1154G>A (AMACR) | ENSP00000427227.1:n.391+1154G>A | |
| ENST00000512079.5:c.524G>A (AMACR) | ENSP00000477411.1:p.Gly175Asp | |
| ENST00000514195.1:n.403+1154G>A (AMACR) | ||
| NM_001167595.1:c.524G>A (AMACR) | NP_001161067.1:p.Gly175Asp | |
| NM_014324.5:c.524G>A (AMACR) | NP_055139.4:p.Gly175Asp | |
| NM_203382.2:c.391+1154G>A (AMACR) | NP_976316.1:n.391+1154G>A | |
| NR_037951.1:n.908+1154G>A (C1QTNF3-AMACR) | ||
| NM_014324.6:c.524G>A (AMACR) MANE Select | NP_055139.4:p.Gly175Asp | |
| NM_001167595.2:c.524G>A (AMACR) | NP_001161067.1:p.Gly175Asp | |
| NM_203382.3:c.391+1154G>A (AMACR) | NP_976316.1:n.391+1154G>A |