Canonical Allele Identifier: CA9016460
Gene: MADCAM1 HGNC NCBI
MADCAM1-AS1 HGNC NCBI
COSMIC:
COSM4132274 (not active)
MyVariant.info:
GRCh38 chr19:g.501900C>A
GRCh37 chr19:g.501900C>A
Revel Score:
ENST00000537731 0.155
ENST00000542525 0.155
ENST00000543297 0.155
ENST00000215637 (MANE Select) 0.155
gnomAD v2:
19:501900 C / A
gnomAD v3:
19:501900 C / A
gnomAD v4:
chr19-501900-C-A
Joint Max Group AF 0.33551713 (EAS)
Genomes Max Group AF 0.31996822 (EAS)
Exomes Max Group AF 0.33619276 (EAS)
dbSNP:
3745925
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.501900C>A , CM000681.2:g.501900C>A GRCh38
NC_000019.9:g.501900C>A , CM000681.1:g.501900C>A GRCh37
NC_000019.8:g.452900C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000215637.8:c.899C>A (MADCAM1) MANE Select ENSP00000215637.2:p.Pro300His
ENST00000215637.7:c.899C>A (MADCAM1) ENSP00000215637.2:p.Pro300His
ENST00000346144.8:c.668-2845C>A (MADCAM1) ENSP00000304247.2:n.668-2845C>A
ENST00000382683.8:c.383-2845C>A (MADCAM1) ENSP00000372130.4:n.383-2845C>A
ENST00000587541.5:c.242C>A (MADCAM1) ENSP00000475575.1:p.Pro81His
ENST00000613880.4:c.971C>A (MADCAM1) ENSP00000480908.1:p.Pro324His
ENST00000617201.4:c.953C>A (MADCAM1) ENSP00000484317.1:p.Pro318His
ENST00000619333.4:c.947C>A (MADCAM1) ENSP00000484153.1:p.Pro316His
ENST00000621286.1:c.953C>A (MADCAM1) ENSP00000483663.1:p.Pro318His
ENST00000622462.4:c.923C>A (MADCAM1) ENSP00000480104.1:p.Pro308His
NM_130760.2:c.899C>A (MADCAM1) NP_570116.2:p.Pro300His
NM_130762.2:c.668-2845C>A (MADCAM1) NP_570118.1:n.668-2845C>A
XR_936221.1:n.85-276G>T (MADCAM1-AS1)
XR_936222.1:n.85-276G>T (MADCAM1-AS1)
XR_936221.3:n.88-276G>T (MADCAM1-AS1)
NM_130760.3:c.899C>A (MADCAM1) MANE Select NP_570116.2:p.Pro300His
NM_130762.3:c.668-2845C>A (MADCAM1) NP_570118.1:n.668-2845C>A
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