Revel Score:
ENST00000537731
0.111
ENST00000542525
0.111
ENST00000543297
0.111
ENST00000215637 (MANE Select)
0.111
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.501900C>G , CM000681.2:g.501900C>G | GRCh38 |
| NC_000019.9:g.501900C>G , CM000681.1:g.501900C>G | GRCh37 |
| NC_000019.8:g.452900C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215637.8:c.899C>G (MADCAM1) MANE Select | ENSP00000215637.2:p.Pro300Arg | |
| ENST00000215637.7:c.899C>G (MADCAM1) | ENSP00000215637.2:p.Pro300Arg | |
| ENST00000346144.8:c.668-2845C>G (MADCAM1) | ENSP00000304247.2:n.668-2845C>G | |
| ENST00000382683.8:c.383-2845C>G (MADCAM1) | ENSP00000372130.4:n.383-2845C>G | |
| ENST00000587541.5:c.242C>G (MADCAM1) | ENSP00000475575.1:p.Pro81Arg | |
| ENST00000613880.4:c.971C>G (MADCAM1) | ENSP00000480908.1:p.Pro324Arg | |
| ENST00000617201.4:c.953C>G (MADCAM1) | ENSP00000484317.1:p.Pro318Arg | |
| ENST00000619333.4:c.947C>G (MADCAM1) | ENSP00000484153.1:p.Pro316Arg | |
| ENST00000621286.1:c.953C>G (MADCAM1) | ENSP00000483663.1:p.Pro318Arg | |
| ENST00000622462.4:c.923C>G (MADCAM1) | ENSP00000480104.1:p.Pro308Arg | |
| NM_130760.2:c.899C>G (MADCAM1) | NP_570116.2:p.Pro300Arg | |
| NM_130762.2:c.668-2845C>G (MADCAM1) | NP_570118.1:n.668-2845C>G | |
| XR_936221.1:n.85-276G>C (MADCAM1-AS1) | ||
| XR_936222.1:n.85-276G>C (MADCAM1-AS1) | ||
| XR_936221.3:n.88-276G>C (MADCAM1-AS1) | ||
| NM_130760.3:c.899C>G (MADCAM1) MANE Select | NP_570116.2:p.Pro300Arg | |
| NM_130762.3:c.668-2845C>G (MADCAM1) | NP_570118.1:n.668-2845C>G |