Revel Score:
ENST00000356140 (MANE Select)
0.382
ENST00000283054
0.382
ENST00000392928
0.382
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003651 (SAS)
Exomes Max Group AF
0.00003836 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134898383G>A , CM000664.2:g.134898383G>A | GRCh38 |
| NC_000002.11:g.135655953G>A , CM000664.1:g.135655953G>A | GRCh37 |
| NC_000002.10:g.135372423G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356140.10:c.892G>A (ACMSD) MANE Select | ENSP00000348459.5:p.Glu298Lys | |
| ENST00000356140.9:c.892G>A (ACMSD) | ENSP00000348459.5:p.Glu298Lys | |
| ENST00000392928.5:c.718G>A (ACMSD) | ENSP00000376659.1:p.Glu240Lys | |
| NM_001307983.1:c.718G>A (ACMSD) | NP_001294912.1:p.Glu240Lys | |
| NM_138326.2:c.892G>A (ACMSD) | NP_612199.2:p.Glu298Lys | |
| NR_036549.1:n.44+20180C>T (CCNT2-AS1) | ||
| XM_005263586.3:c.745G>A (ACMSD) | XP_005263643.1:p.Glu249Lys | |
| XM_005263588.3:c.718G>A (ACMSD) | XP_005263645.1:p.Glu240Lys | |
| XM_005263589.3:c.706G>A (ACMSD) | XP_005263646.1:p.Glu236Lys | |
| XM_005263590.3:c.685G>A (ACMSD) | XP_005263647.1:p.Glu229Lys | |
| XM_011510592.1:c.718G>A (ACMSD) | XP_011508894.1:p.Glu240Lys | |
| XM_005263586.4:c.745G>A (ACMSD) | XP_005263643.1:p.Glu249Lys | |
| XM_005263588.4:c.718G>A (ACMSD) | XP_005263645.1:p.Glu240Lys | |
| XM_005263589.4:c.706G>A (ACMSD) | XP_005263646.1:p.Glu236Lys | |
| XM_005263590.4:c.685G>A (ACMSD) | XP_005263647.1:p.Glu229Lys | |
| XM_011510592.2:c.718G>A (ACMSD) | XP_011508894.1:p.Glu240Lys | |
| XM_017003325.1:c.718G>A (ACMSD) | XP_016858814.1:p.Glu240Lys | |
| XM_017003326.1:c.718G>A (ACMSD) | XP_016858815.1:p.Glu240Lys | |
| XM_024452690.1:c.706G>A (ACMSD) | XP_024308458.1:p.Glu236Lys | |
| XM_024452691.1:c.706G>A (ACMSD) | XP_024308459.1:p.Glu236Lys | |
| NM_138326.3:c.892G>A (ACMSD) MANE Select | NP_612199.2:p.Glu298Lys | |
| NM_001307983.2:c.718G>A (ACMSD) | NP_001294912.1:p.Glu240Lys |