Linked Data
ClinVar Variation Id:
128359
dbSNP Id:
rs34677
ExAC:
5:33998768 C / A
gnomAD v2:
5-33998768-C-A
gnomAD v3:
5-33998663-C-A
gnomAD v4:
5-33998663-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33998663C>A , CM000667.2:g.33998663C>A | GRCh38 |
| NC_000005.9:g.33998768C>A , CM000667.1:g.33998768C>A | GRCh37 |
| NC_000005.8:g.34034525C>A | NCBI36 |
| NG_016211.1:g.14453G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335606.11:c.717G>T (AMACR) MANE Select | ENSP00000334424.6:p.Gln239His | |
| ENST00000335606.10:c.717G>T (AMACR) | ENSP00000334424.6:p.Gln239His | |
| ENST00000382068.3:c.556G>T (AMACR) | ENSP00000477108.1:p.Val186Phe | |
| ENST00000382072.6:c.556G>T (AMACR) | ENSP00000371504.2:p.Val186Phe | |
| ENST00000382079.3:c.*143G>T (C1QTNF3-AMACR) | ENSP00000371511.3:n.*143G>T | |
| ENST00000382085.7:c.717G>T (AMACR) | ENSP00000371517.3:p.Gln239His | |
| ENST00000426255.6:c.717G>T (AMACR) | ENSP00000476965.1:p.Gln239His | |
| ENST00000502637.5:c.672G>T (AMACR) | ENSP00000424351.1:p.Gln224His | |
| ENST00000506639.5:c.556G>T (AMACR) | ENSP00000427227.1:p.Val186Phe | |
| ENST00000512079.5:c.717G>T (AMACR) | ENSP00000477411.1:p.Gln239His | |
| ENST00000514195.1:n.568G>T (AMACR) | ||
| NM_001167595.1:c.717G>T (AMACR) | NP_001161067.1:p.Gln239His | |
| NM_014324.5:c.717G>T (AMACR) | NP_055139.4:p.Gln239His | |
| NM_203382.2:c.556G>T (AMACR) | NP_976316.1:p.Val186Phe | |
| NR_037951.1:n.1073G>T (C1QTNF3-AMACR) | ||
| NM_014324.6:c.717G>T (AMACR) MANE Select | NP_055139.4:p.Gln239His | |
| NM_001167595.2:c.717G>T (AMACR) | NP_001161067.1:p.Gln239His | |
| NM_203382.3:c.556G>T (AMACR) | NP_976316.1:p.Val186Phe |